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15890002: Albinism (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
26917012 Albinism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
26920016 Albinismus en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
742804013 Albinism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
68701000077116 albinisme fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

33 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Albinism Is a Genodermatosis false Inferred relationship Some
Albinism Is a Disease of eye false Inferred relationship Some
Albinism Is a Hereditary disorder of the integument false Inferred relationship Some
Albinism Is a Disorder of tyrosine metabolism (disorder) false Inferred relationship Some
Albinism Is a Congenital anomaly of head false Inferred relationship Some
Albinism Is a Congenital deficiency of pigment of skin false Inferred relationship Some
Albinism Is a Disorder of skin AND/OR subcutaneous tissue of head (disorder) false Inferred relationship Some
Albinism Finding site Eye structure false Inferred relationship Some
Albinism Associated morphology Congenital deficiency false Inferred relationship Some
Albinism Associated morphology Congenital hypopigmentation false Inferred relationship Some 1
Albinism Finding site Structure of skin region false Inferred relationship Some 2
Albinism Occurrence Congenital false Inferred relationship Some
Albinism Finding site Skin structure false Inferred relationship Some 3
Albinism Is a Disorder of eye region (disorder) false Inferred relationship Some
Albinism Is a Hereditary disorder of the visual system false Inferred relationship Some
Albinism Finding site Eye region structure (body structure) false Inferred relationship Some
Albinism Is a Site-specific disorder of skin false Inferred relationship Some
Albinism Associated morphology Congenital hypopigmentation false Inferred relationship Some
Albinism Is a Congenital anomaly of eye false Inferred relationship Some
Albinism Finding site Eye structure false Inferred relationship Some 1
Albinism Is a Disorder of pigmentation (disorder) true Inferred relationship Some
Albinism Is a Inborn error of metabolism true Inferred relationship Some
Albinism Associated morphology Decreased melanin pigmentation false Inferred relationship Some
Albinism Is a Congenital anomaly false Inferred relationship Some
Albinism Is a Congenital malformation true Inferred relationship Some
Albinism Occurrence Congenital true Inferred relationship Some 1
Albinism Associated morphology Congenital hypopigmentation false Inferred relationship Some 1
Albinism Occurrence Congenital false Inferred relationship Some 2
Albinism Associated morphology Decreased melanin pigmentation false Inferred relationship Some 2
Albinism Associated morphology Decreased melanin pigmentation true Inferred relationship Some 1
Albinism Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Albinism Associated morphology Hypopigmentation false Inferred relationship Some 1
Albinism Is a Developmental hereditary disorder true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
A very rare subtype of Waardenburg syndrome (WS) with characteristics of limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin. Caused by heterozygous or homozygous mutations in the PAX3 (2q36.1) gene. Is a False Albinism Inferred relationship Some
Ocular albinism Is a True Albinism Inferred relationship Some
Hypopigmentation-immunodeficiency disease Is a False Albinism Inferred relationship Some
albinoïdisme Is a False Albinism Inferred relationship Some
Oculocutaneous albinism Is a True Albinism Inferred relationship Some
Partial albinism Is a True Albinism Inferred relationship Some
Woolf's syndrome Is a True Albinism Inferred relationship Some
Albinism-deafness syndrome of Tietz (disorder) Is a True Albinism Inferred relationship Some
Ziprkowski-Margolis syndrome (disorder) Is a True Albinism Inferred relationship Some
Phylloid hypomelanosis (disorder) Is a True Albinism Inferred relationship Some
Albinism co-occurrent with hematologic disorder (disorder) Is a True Albinism Inferred relationship Some
A rare disorder characterized by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1. Is a False Albinism Inferred relationship Some

Reference Sets

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