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1953005: Congenital deficiency of pigment of skin (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4374015 Congenital deficiency of pigment of skin en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
747753014 Congenital deficiency of pigment of skin (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4393601000241113 hypopigmentation congénitale de la peau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

36 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital deficiency of pigment of skin Is a Congenital anomaly of skin false Inferred relationship Some
Congenital deficiency of pigment of skin Is a Skin lesion false Inferred relationship Some
Congenital deficiency of pigment of skin Associated morphology Congenital deficiency false Inferred relationship Some
Congenital deficiency of pigment of skin Associated morphology Congenital hypopigmentation false Inferred relationship Some 1
Congenital deficiency of pigment of skin Occurrence Congenital false Inferred relationship Some
Congenital deficiency of pigment of skin Finding site Skin structure false Inferred relationship Some 1
Congenital deficiency of pigment of skin Is a Congenital pigmentary anomaly of skin false Inferred relationship Some
Congenital deficiency of pigment of skin Is a Congenital anomaly of skin false Inferred relationship Some
Congenital deficiency of pigment of skin Is a Skin hypopigmented true Inferred relationship Some
Congenital deficiency of pigment of skin Finding site Skin structure false Inferred relationship Some 1
Congenital deficiency of pigment of skin Associated morphology Congenital hypopigmentation false Inferred relationship Some 1
Congenital deficiency of pigment of skin Occurrence Congenital false Inferred relationship Some 2
Congenital deficiency of pigment of skin Associated morphology Congenital hypopigmentation false Inferred relationship Some 2
Congenital deficiency of pigment of skin Finding site Skin structure false Inferred relationship Some 2
Congenital deficiency of pigment of skin Occurrence Congenital true Inferred relationship Some 1
Congenital deficiency of pigment of skin Finding site Skin structure true Inferred relationship Some 1
Congenital deficiency of pigment of skin Is a Congenital pigmentary skin anomalies true Inferred relationship Some
Congenital deficiency of pigment of skin Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital deficiency of pigment of skin Associated morphology Hypopigmentation true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Albinism Is a False Congenital deficiency of pigment of skin Inferred relationship Some
Congenital oculocutaneous hypopigmentation Is a True Congenital deficiency of pigment of skin Inferred relationship Some
Hypopigmentation-immunodeficiency disease Is a False Congenital deficiency of pigment of skin Inferred relationship Some
albinoïdisme Is a False Congenital deficiency of pigment of skin Inferred relationship Some
Oculocutaneous albinism Is a False Congenital deficiency of pigment of skin Inferred relationship Some
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 Congenital deficiency of pigment of skin Inferred relationship Some
Oculocerebral hypopigmentation syndrome, Preus type is a rare congenital syndrome characterized by skin and hair hypopigmentation, growth retardation, and intellectual deficit that are associated with a combination of various additional clinical anomalies such as ocular albinism, cataract, delayed neuro-psychomotor development, sensorineural hearing loss, dolicocephaly, high arched palate, widely spaced teeth, anemia, and/or nystagmus. Is a True Congenital deficiency of pigment of skin Inferred relationship Some
Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes. Is a True Congenital deficiency of pigment of skin Inferred relationship Some
Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss. Is a True Congenital deficiency of pigment of skin 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 Congenital deficiency of pigment of skin Inferred relationship Some
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Is a True Congenital deficiency of pigment of skin Inferred relationship Some
A rare genetic multiple congenital anomalies characterized by deafness and defects in neural crest-derived structures, including pigmentation anomalies of the eyes, hair, and skin. Four clinical phenotypes are associated with the term Waardenburg syndrome (WS). Is a True Congenital deficiency of pigment of skin Inferred relationship Some
Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971. Is a True Congenital deficiency of pigment of skin Inferred relationship Some
Phylloid hypomelanosis (disorder) Is a True Congenital deficiency of pigment of skin Inferred relationship Some
A rare ectodermal dysplasia syndrome characterized by linear hypopigmentation and hypotrichosis following the lines of Blaschko, symmetric or asymmetric facial dysmorphism, and body asymmetry, in association with ocular, dental, and acral anomalies. Reported manifestations include microphthalmia, strabismus, myopia, oligodontia, microdontia, conical teeth, abnormal enamel, brachydactyly, syndactyly, and broad first toe, as well as dysmorphic facial features such as downslanting palpebral fissures, broad nasal bridge, malar hypoplasia, and microstomia. Brain imaging may show cystic leukoencephalopathy and ventricular dilation. Is a True Congenital deficiency of pigment of skin Inferred relationship Some

This concept is not in any reference sets

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