- 1. 14-3-3 Family
- [The 14-3-3 family of proteins mediates signal transduction by binding to phosphoserine-containing proteins. Two different binding motifs, RSXpSXP and RXY/FXpSXP, are present in nearly all known 14-3-3 binding proteins. The14-3-3 dimer binds tightly to single molecules containing tandem repeats of phosphoserine motifs, implicating bidentate association as a signaling mechanism with molecules such as Raf, BAD, and Cbl. (from OMIM) ( NCI )] (UMLS (NCI) C1337047) =Amino Acid, Peptide, or Protein; Biologically Active Substance
| - 51. FAMILIAL POLYCYTHEMIA
- (UMLS (ICD9CM) C0152264) =Disease or Syndrome ;
|
- 2. FAM HX DIGEST DISORD NEC
- (UMLS (ICD9CM) C1719679) Other digestive disorders =Disease or Syndrome
| - 52. familial progressive polyneuropathy
- [ ] (UMLS (CSP) C0598588) =Pathologic Function
|
- 3. FAM HX GENET DIS CARRIER
- [an individual who is heterozygous for a recessive gene and thus does not express the recessive phenotype but can transmit the gene to offspring. ( CSP )] (UMLS (ICD9CM) C0007294) =Patient or Disabled Group =family genetics;
| - 53. Familial Renal Oncocytoma
- (UMLS (NCI) C0879606) Hereditary Renal Oncocytoma =Neoplastic Process
|
- 4. FAM HX MEN SYNDROME
- [ ] (UMLS (ICD9CM) C1955576) Multiple endocrine neoplasia [MEN] syndrome;
=Finding | - 54. Familial Renal Papillary Carcinoma
- (UMLS (NCI) C0879257) Hereditary Kidney Papillary Carcinoma;
Hereditary Papillary Carcinoma of Kidney;
Hereditary Papillary Carcinoma of the Kidney;
Hereditary Papillary Renal Carcinoma;
Hereditary Papillary Renal Cell Carcinoma;
=Neoplastic Process |
- 5. FAM HX SUDDEN CARD DEATH
- [ ] (UMLS (ICD9CM) C1955575) Family history of sudden cardiac death (SCD);
=Disease or Syndrome | - 55. Familial Retinoblastoma
- (UMLS (NCI) C0751483) Hereditary Retinoblastoma =Neoplastic Process
|
- 6. FAM HX-BLADDER MALIG
- [ ] (UMLS (ICD9CM) C1955574) Family history of malignant neoplasm of bladder;
=Disease or Syndrome | - 56. familial splenic anemia
- [autosomal recessive disorder caused by deficiency of the enzyme glucocerebrosidase featuring the pathological storage of glycosylceramide in mononuclear phagocytes; the most common subtype is the non-neuronopathic form, a slowly progressive condition characterized by hepatosplenomegaly and skeletal deformities; the neuronopathic forms are divided into infantile and juvenile forms; the infantile form presents at 4-5 months of age with anemia, loss of cognitive gains, neck retraction, dysphagia, and hepatosplenomegaly; the juvenile form features a slowly progressive loss of intellect, hepatosplenomegaly, ataxia, myoclonic seizures, and spasticity; the neuronopathic forms are characterized by neuronal loss with neuronophagia, and accumulation of glucocerebroside in neurons. ( CSP )] (UMLS (CSP) C0017205) =Disease or Syndrome ;
=Arrieration mentale;
Reticuloendothelial Hyperplasia;
Sphingolipidoses;
enzyme deficiency |
- 7. FAM HX-BLOOD DISORD NEC
- [ ] (UMLS (ICD9CM) C0260529) =Finding
| - 57. Familial Wilms' Tumor
- [Familial embryonal neoplasm derived from nephrogenic blastemal cells. Several lines of differentiation, including blastemal, stromal and epithelial, are usually expressed. Comprises approximately 1% of Wilms' tumors. (AFIP fascicle version 2.0 mo011000) ( NCI )] (UMLS (NCI) C0677779) =Neoplastic Process
|
- 8. FAM HX-CARDIOVAS DIS NEC
- [ ] (UMLS (ICD9CM) C1963707) Family history of other cardiovascular diseases;
=Finding ;
| - 58. Familiar Atypical Multiple Mole
- (UMLS (NCI) C0015565) =Finding
|
- 9. FAM HX-CHR RESP COND NEC
- [ ] (UMLS (ICD9CM) C0260523) =Finding
| - 59. Familiar Dystonia
- (UMLS (NCI) C0752207) =Disease or Syndrome
|
- 10. FAM HX-CONGEN ANOMALIES
- [ ] (UMLS (ICD9CM) C0260541) =Finding
| - 60. Familiar Female Breast Carcinoma
- (UMLS (NCI) C1333986) Hereditary Female Breast Carcinoma =Neoplastic Process ;
|
- 11. FAM HX-DIABETES MELLITUS
- [ ] (UMLS (ICD9CM) C0260526) =Finding
| - 61. Familiar Idiopathic Dystonia
- (UMLS (NCI) C0393598) =Disease or Syndrome
|
- 12. FAM HX-INTRATHORACIC MAL
- [ ] (UMLS (ICD9CM) C0260508) =Finding
| - 62. Familiar Male Breast Carcinoma
- (UMLS (NCI) C1333988) Hereditary Male Breast Carcinoma =Neoplastic Process ;
|
- 13. FAM HX-ISCHEM HEART DIS
- [ ] (UMLS (ICD9CM) C0260520) =Finding
| - 63. Familiar Neoplastic Syndrome
- [The inherited predisposition toward getting a cancer ( NCI )] (UMLS (NCI) C0027672) =Neoplastic Process =Genetic Condition;
KASVAIMET =Colorectal Neoplasms, Hereditary Nonpolyposis;
Atypical Mole Syndrome;
Gardner Syndrome;
Cowden Syndrome;
MEA;
Jeghers-Peutz Syndrome;
Adenomatous Polyposis Coli;
Encephalotrigeminal Syndrome;
Li Fraumeni syndrome;
neurofibromatoses |
- 14. FAM HX-KIDNEY DIS NEC
- [ ] (UMLS (ICD9CM) C0695259) =Finding
| - 64. Familiar Ovarian Carcinoma
- (UMLS (NCI) C1333992) Hereditary Ovarian Carcinoma =Neoplastic Process ;
|
- 15. FAM HX-LYMPH NEOPLAS NEC
- [ ] (UMLS (ICD9CM) C0260513) =Finding
| - 65. Family
- (UMLS (HL7) C1563343) =Idea or Concept ;
=Living Arrangement;
◊ (UMLS (HL7) C1552262) Professional or Occupational Group Nurse Practitioner; |
- 16. FAM HX-MENTAL RETARDAT
- [ ] (UMLS (ICD9CM) C0260530) =Finding
| - 66. family
- [Family name, this is the name that links to the genealogy. In some cultures (e.g. Eritrea) the family name of a son is the first name of his father. ( HL7V3.0 )] (UMLS (HL7) C1546847) =Idea or Concept =EntityNamePartType;
|
- 17. FAM HX-NEUROLOG DIS NEC
- [ ] (UMLS (ICD9CM) C0260519) =Finding
| - 67. Family
- (UMLS (HL7) C1555907) =Professional or Occupational Group =Psychologist;
|
- 18. FAM HX-POLYCYSTIC KIDNEY
- [ ] (UMLS (ICD9CM) C0455422) =Finding
| - 68. family ataxia
- [inherited disease with degenerative changes in the dorsal half of spinal cord and cerebellum; characterized by ataxia of extremities and trunk, speech impairment, and lateral curvature of the spine. ( CSP )] (UMLS (CSP) C0016719) =Disease or Syndrome ;
=Cerebellar Diseases;
Genetic Condition;
Spinocerebellar Degenerations;
|
- 19. FAM HX-PSYCHIATRIC COND
- [ ] (UMLS (ICD9CM) C0260517) =Finding
| - 69. Family Cancer History
- [A record of a patient's medical background regarding the cancer and cancer-related problems of blood relatives. ( NCI )] (UMLS (NCI) C0260515) =Finding
|
- 20. FAM HX-URINRY MALIG NEC
- (UMLS (ICD9CM) C0700059) =Finding
| - 70. FAMILY CIRCUMSTANCE NOS
- [ ] (UMLS (ICD9CM) C0029795) =Finding ;
|
- 21. FAM MEDITERRANEAN FEVER
- [An autosomal recessive inherited disease characterized by episodic FEVER; severe ABDOMINAL PAIN; PLEURISY; ARTHRITIS; and a characteristic ankle RASH. Disease flare-ups tend to last 3 days, and individuals are asymptomatic between attacks. ORCHITIS; benign recurrent MENINGITIS; HEADACHE; and AMYLOID nephropathy may also occur. (From Medicine (Baltimore) 1998 Jul;77(4):268-97) ( MSH )] (UMLS (ICD9CM) C0031069) =Disease or Syndrome ;
=Hypothalamic Diseases;
| - 71. FAMILY CIRCUMSTANCES NEC
- [ ] (UMLS (ICD9CM) C0481799) =Finding
|
- 22. FAMCICLOVIR
- [A diacetyl 6-deoxy prodrug analog of the antiviral agent penciclovir. Orally administered, famciclovir in vivo is converted to penciclovir triphosphate, which is active against the Herpes viruses, including herpes simplex 1 and 2 and varicella-zoster. This agent inhibits the replication of viral DNA by interfering competitively with DNA polymerase. (NCI04) ( NCI )] (UMLS (NCI) C0209227) =Organic Chemical; Pharmacologic Substance =2-Aminopurine;
[AM800] ANTIVIRALS =FAMCICLOVIR 125 MG;
FAMCICLOVIR 250 MG;
FAMCICLOVIR 500 MG;
| - 72. family dependent
- [The player of the role is dependent of the scoping entity. ( HL7V3.0 )] (UMLS (HL7) C1552576) =Intellectual Product =CoverageRoleType;
|
- 23. FAMIL HERED DIS-ANTEPART
- [ ] (UMLS (ICD9CM) C0157075) =Disease or Syndrome
| - 73. FAMILY DISRUPTION
- [ ] (UMLS (ICD9CM) C0481798) =Finding
|
- 24. FAMIL HEREDIT DIS-DELIV
- [ ] (UMLS (ICD9CM) C0157074) =Disease or Syndrome
| - 74. family dynamics
- [composition of a family unit and interaction of the individual members with each other and as a unit. ( CSP )] (UMLS (CSP) C0015609) =Social Behavior =Familial;
=parent child interaction;
|
- 25. FAMIL HEREDIT DIS-UNSPEC
- [ ] (UMLS (ICD9CM) C0157073) =Disease or Syndrome ;
| - 75. family genetics
- [index on studies of possible genetic transmission of disease or other phenotypes within families. ( CSP )] (UMLS (CSP) C0599775) =Occupation or Discipline ;
=human population genetics;
=FAM HX GENET DIS CARRIER |
- 26. Familial
- [group of individuals related by blood or marriage or other arrangements, including parents or parent substitutes and children, however, the specific members differ from culture to culture. ( CSP )] (UMLS (NCI) C0015576) =Family Group =ethology;
sociology/anthropology =child rearing;
unwanted child;
family dynamics;
family size;
household;
Parent;
Sib;
Spouse;
grandparent;
marriage/marital status | - 76. Family Health
- (UMLS (HL7) C1552233) =Professional or Occupational Group =Clinical Nurse Specialist;
|
- 27. Familial Adenomatous Polyposis Associated Medulloblastoma
- [A medulloblastoma developing in patients with familiar adenomatous polyposis syndrome. It is observed in patients with Turcot syndrome, type 2. ( NCI )] (UMLS (NCI) C1333598) FAP Associated Medulloblastoma;
=Neoplastic Process | - 77. Family Health Care Professional
- (UMLS (HL7) C1547430) =Professional or Occupational Group =Provider role;
|
- 28. Familial Atypical Mole Melanoma Syndrome
- (UMLS (NCI) C0205747) =Neoplastic Process
| - 78. FAMILY HEALTH PROBL NEC
- [ ] (UMLS (ICD9CM) C0260804) =Finding
|
- 29. Familial Breast Carcinoma
- (UMLS (NCI) C0346153) =Neoplastic Process
| - 79. Family history of allergic disorders
- [ ] (UMLS (ICD9CM) C0260542) =Finding
|
- 30. Familial Breast/Ovarian Cancer (BRCA1, BRCA2)
- (UMLS (NCI) C0677776) =Neoplastic Process
| - 80. Family history of anemia
- [ ] (UMLS (ICD9CM) C0260528) =Finding
|
- 31. familial cancer
- [Cancer that occurs in families more often than would be expected by chance. These cancers often occur at an early age, and may indicate the presence of a gene mutation that increases the risk of cancer. They may also be a sign of shared environmental or lifestyle factors. ( NCI )] (UMLS (NCI) C1333600) Familiar Malignant Neoplasm;
Hereditary Cancer;
Hereditary Malignant Neoplasm;
=Neoplastic Process | - 81. Family history of arthritis
- (UMLS (ICD9CM) C0221565) =Finding ;
|
- 32. familial cholesteryl ester deficiency
- [disease characterized by abnormally low levels of plasma lecithin cholesterol acyl transferase; clinical manifestations include corneal opacity, anemia, and proteinuria. ( CSP )] (UMLS (CSP) C0023195) =Disease or Syndrome ;
=hypolipoproteinemia;
enzyme deficiency;
familial hypolipoproteinemia;
| - 82. Family history of asthma
- [ ] (UMLS (ICD9CM) C0260522) =Finding
|
- 33. familial disorder
- [ ] (UMLS (CSP) C0277558) =Disease or Syndrome
| - 83. Family history of blindness or visual loss
- (UMLS (ICD9CM) C0496709) =Finding
|
- 34. familial erythroblastic anemia
- [ ] (UMLS (CSP) C0599527) =Disease or Syndrome ;
| - 84. Family history of certain chronic disabling diseases
- [ ] (UMLS (ICD9CM) C0260516) =Finding
|
- 35. familial fat induced hyperlipemia
- [ ] (UMLS (CSP) C0598426) =Disease or Syndrome ;
| - 85. Family history of certain other specific conditions
- [ ] (UMLS (ICD9CM) C0260525) =Finding
|
- 36. Familial Glomangioma
- [A familial glomus tumor. ( NCI )] (UMLS (NCI) C1333987) Hereditary Glomangioma =Neoplastic Process ;
| - 86. Family history of deafness or hearing loss
- [ ] (UMLS (ICD9CM) C0260538) =Finding
|
- 37. familial hemophagocytic lymphohistiocytosis
- [Rare form of hemophagocytic lymphohistiocytosis with multiorgan involvement seen in infants and young children ( MSH )] (UMLS (CSP) C0272199) =Neoplastic Process
| - 87. Family history of digestive disorders
- (UMLS (ICD9CM) C0496716) =Finding
|
- 38. familial high density lipoprotein deficiency
- [ ] (UMLS (CSP) C1704429) =Disease or Syndrome ;
| - 88. Family history of infectious and parasitic diseases
- [ ] (UMLS (ICD9CM) C0260534) =Finding
|
- 39. familial hyperbetalipoproteinemia
- [characterized by increased plasma concentration of cholesterol carried in low density lipoproteins (LDL) and by a deficiency in a cell surface receptor which regulates LDL degradation and cholesterol synthesis. ( CSP )] (UMLS (CSP) C0020445) =Disease or Syndrome =hypercholesteremia;
Hyperlipidemia, Familial Combined;
familial hyperlipoproteinemia;
| - 89. Family history of kidney diseases
- [ ] (UMLS (ICD9CM) C1261328) =Finding ;
|
- 40. familial hyperlipemia
- [ ] (UMLS (CSP) C0694546) =Disease or Syndrome
| - 90. Family history of leukemia
- [ ] (UMLS (ICD9CM) C0260512) =Finding
|
- 41. familial hyperlipoproteinemia
- [group of disorders genetically distinct from the other inherited hyperlipidemias classified on the basis of type I through V phenotypes; see narrower terms. ( CSP )] (UMLS (CSP) C0700623) =Disease or Syndrome ;
=hyperlipoproteinemia;
inborn lipid/lipoprotein disorder =familial hyperbetalipoproteinemia;
broad beta disease;
familial hyperlipoproteinemia type IV;
Burger Grutz syndrome;
| - 91. Family history of malignant neoplasm
- [ ] (UMLS (ICD9CM) C1261378) Family history of unspecified malignant neoplasm;
FAMILY HX-MALIGNANCY NOS =Finding ;
|
- 42. familial hyperlipoproteinemia type IV
- [characterized by an isolated elevation in the plasma level of endogenously synthesized triglyceride carried in VLDL; considered to be an autosomal dominant trait. ( CSP )] (UMLS (CSP) C0020480) =Disease or Syndrome =Hyperlipidemia, Familial Combined;
familial hyperlipoproteinemia | - 92. Family history of malignant neoplasm of breast
- [ ] (UMLS (ICD9CM) C1261325) FAMILY HX-BREAST MALIG =Finding ;
|
- 43. familial hyperlipoproteinemia type V
- [A severe type of hyperlipidemia, sometimes familial, that it is characterized by the elevation of both plasma CHYLOMICRONS and TRIGLYCERIDES contained in VERY-LOW-DENSITY LIPOPROTEINS. Type V hyperlipoproteinemia is often associated with DIABETES MELLITUS and is not caused by reduced LIPOPROTEIN LIPASE activity as in HYPERLIPOPROTEINEMIA TYPE I . ( MSH )] (UMLS (CSP) C0020481) =Disease or Syndrome =hyperlipoproteinemia;
| - 93. Family history of malignant neoplasm of gastrointestinal tract
- [ ] (UMLS (ICD9CM) C0260506) =Finding
|
- 44. familial hypogonadism with anosmia
- [anosmia due to failure of the olfactory lobes to develop, with secondary hypogonadism due to gonadotropic hormone deficiency. ( CSP )] (UMLS (CSP) C0162809) =Disease or Syndrome ;
=anosmia;
hypogonadism;
Sex Chromosome Abnormalities;
sex differentiation disorder;
syndrome;
congenital disorder | - 94. Family history of malignant neoplasm of genital organs
- [ ] (UMLS (ICD9CM) C0260510) =Finding
|
- 45. familial hypolipoproteinemia
- [inherited diseases characterized by the presence of abnormally low levels of lipoproteins in the blood. ( CSP )] (UMLS (CSP) C0268197) =Disease or Syndrome ;
=hypolipoproteinemia;
inborn lipid/lipoprotein disorder =abetalipoproteinemia;
familial cholesteryl ester deficiency;
Tangier disease;
| - 95. Family history of malignant neoplasm of kidney
- (UMLS (ICD9CM) C0700102) =Finding ;
|
- 46. familial hypophosphatemia in rickets
- [group of disorders characterized by rickets but not responding to high doses of vitamin D; most are forms of familial hypophosphatemic rickets. ( CSP )] (UMLS (CSP) C0733682) hypophosphatemia in rickets;
vitamin D resistant rickets;
X linked hypophosphatemia in rickets =Disease or Syndrome =DIS PHOSPHORUS METABOL;
rickets;
inborn biological transport disorder;
| - 96. Family history of malignant neoplasm of other genital organ
- [ ] (UMLS (ICD9CM) C0490020) =Finding
|
- 47. familial hypothyroidism
- [inherited deficiency of thyroid gland activity. ( CSP )] (UMLS (CSP) C0596558) =Disease or Syndrome =Genetic Condition;
hypothyroidism | - 97. Family history of malignant neoplasm of ovary
- [ ] (UMLS (ICD9CM) C0490017) =Finding
|
- 48. Familial Meningioma
- (UMLS (NCI) C1333989) Hereditary Meningioma =Neoplastic Process ;
| - 98. Family history of malignant neoplasm of prostate
- [ ] (UMLS (ICD9CM) C1532320) FM HX PROSTATE MALIG;
=Finding |
- 49. Familial Paraganglioma
- [An inherited neoplasm arising from paraganglia. The majority of cases (up to 80%) are multifocal. ( NCI )] (UMLS (NCI) C1333993) Hereditary Paraganglioma =Neoplastic Process ;
| - 99. Family history of malignant neoplasm of testis
- [ ] (UMLS (ICD9CM) C0490019) =Finding
|
- 50. familial periodic paralysis
- [heterogenous group of inherited disorders characterized by recurring attacks of rapidly progressive flaccid paralysis or myotonia; these conditions have in common a mutation of the gene encoding the alpha subunit of the sodium channel in skeletal muscle; frequently associated with fluctuations in serum potassium levels; periodic paralysis may also occur as a non-familial process secondary to thyrotoxicosis and other conditions. ( CSP )] (UMLS (CSP) C0030443) =Disease or Syndrome ;
=inborn metal metabolism disorder;
muscle disorder;
DISORDERS OF THE PERIPHERAL NERVOUS SYSTEM;
=Paralysis, Hyperkalemic Periodic;
Hypokalemic Periodic Paralysis | - 100. Family history of malignant neoplasm of trachea, bronchus, and lung
- [ ] (UMLS (ICD9CM) C0260507) =Finding
|
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