Hypomelanosis of ito

Preferred Label : Hypomelanosis of ito;

Symbol : HMI;

CISMeF acronym : HMI; IPA; IP1; ITO;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : IP1; Ito hypomelanosis; ITO; Incontinentia pigmenti achromians; IPA; Incontinentia pigmenti, type I;

Inheritance : Somatic mosaicism;

Molecular basis : Caused by chromosomal mosaicism;

Laboratory abnormalities : Chromosomal mosaicism in fibroblast and/or peripheral lymphocytes No consistent karyotypic finding;

Prefixed ID : #300337;

Details

Origin ID

300337;

UMLS CUI

C0022283;

Automatic exact mappings (from CISMeF team)
- Eicosapentaenoic Acid [NCIt concept]
- GDC Hysterectomy Margins Involved Terminology [NCIt concept]
- Harmonic Motion Imaging [NCIt concept]
- Hypomelanosis of Ito [ICD-11 More detail]
- IKBKG wt Allele [NCIt concept]
- Interphalangeal Joint 1 [NCIt concept]
- Invasive Pulmonary Aspergillosis [NCIt concept]
- Ito hypomelanosis [PASCAL descriptor]
- Partial androgen insensitivity syndrome [ORDO Disease]
- hypomelanosis of Ito [HGNC gene]
- isophthalate [MeSH Supplementary Concept]
- isophthalic acid [Substance BNPC]
- ito syndrome [MeSH concept]
- nurse practitioners [MeSH Descriptor]
- pigmentation disorders [MeSH Descriptor]
Currated CISMeF NLP mapping
- Hypomelanosis of Ito [MedDRA Preferred Term]
- Incontinentia pigmenti achromians [MedDRA LLT]
- Incontinentia pigmenti achromians syndrome (disorder) [SNOMED CT concept]
- Ito hypomelanosis [ORDO Disease]
- Nevus of Ito [NCIt concept]
- hypomelanosis of Ito [DO Concept]
- incontinentia pigmenti achromians [Disease (Nov.)]
DO Cross reference
- hypomelanosis of Ito [DO Concept]
False automatic mappings
- IPA Liver Cancer Regimen [NCIt concept]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Alopecia [HPO term]
- Cataract [HPO term]
- Cerebral atrophy [HPO term]
- Clinodactyly [HPO term]
- Coarse facial features [HPO term]
- Epicanthus [HPO term]
- Full lips [HPO term]
- Gray matter heterotopia [HPO term]
- Hand polydactyly [HPO term]
- Heterogeneous [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability [HPO term]
- Iris coloboma [HPO term]
- Irregularly spaced teeth [HPO term]
- Kyphosis [HPO term]
- Macrocephaly [HPO term]
- Macular hypopigmented whorls, streaks, and patches [HPO term]
- Microcephaly [HPO term]
- Radial deviation of finger [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Somatic mosaicism [HPO term]
- Strabismus [HPO term]
- Syndactyly [HPO term]
- Thick lower lip vermilion [HPO term]
- obsolete Gray matter heterotopias [HPO term]
ORDO concept(s)
- Ito hypomelanosis [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Hypomelanosis of Ito [MedDRA Preferred Term]
- Incontinentia pigmenti achromians [MedDRA LLT]
- Incontinentia pigmenti achromians syndrome (disorder) [SNOMED CT concept]
- Ito hypomelanosis [ORDO Disease]
- Nevus of Ito [NCIt concept]
- Nevus of Ito [ORDO Disease]
- Nevus of Ito (disorder) [SNOMED CT concept]
- hypomelanosis of Ito [DO Concept]
- incontinentia pigmenti achromians [Disease (Nov.)]
- ito syndrome [MeSH concept]
- nevus of ito [SNOMED Notion]

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