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239001006: Genodermatosis (disorder)

Status: current, Not 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
358175015 Genodermatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
627958019 Genodermatosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
998541000241118 génodermatose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

314 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Genodermatosis Is a Congenital anomaly of skin true Inferred relationship Some
Genodermatosis Finding site Skin structure true Inferred relationship Some 1
Genodermatosis Occurrence Congenital false Inferred relationship Some
Genodermatosis Associated morphology anomalie congénitale false Inferred relationship Some 1
Genodermatosis Associated morphology anomalie congénitale false Inferred relationship Some 1
Genodermatosis Finding site Skin structure false Inferred relationship Some 1
Genodermatosis Occurrence Congenital false Inferred relationship Some 2
Genodermatosis Associated morphology anomalie du développement false Inferred relationship Some 2
Genodermatosis Finding site Skin structure false Inferred relationship Some 2
Genodermatosis Occurrence Congenital true Inferred relationship Some 1
Genodermatosis Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Genodermatosis Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Pachydermoperiostosis of nail Is a True Genodermatosis Inferred relationship Some
Familial multiple tumor syndrome Is a False Genodermatosis Inferred relationship Some
Multiple benign annular creases of extremities Is a True Genodermatosis Inferred relationship Some
Reticulate pigmented anomaly of flexures Is a True Genodermatosis Inferred relationship Some
Hereditary clubbing (disorder) Is a True Genodermatosis Inferred relationship Some
Cutaneous syndrome with ichthyosis Is a False Genodermatosis Inferred relationship Some
Inherited cutaneous hyperpigmentation Is a True Genodermatosis Inferred relationship Some
Inherited disorder of keratinization Is a False Genodermatosis Inferred relationship Some
Familial focal facial dermal dysplasia Is a False Genodermatosis Inferred relationship Some
Congenital clubbing Is a False Genodermatosis Inferred relationship Some
Albinism Is a False Genodermatosis Inferred relationship Some
Xeroderma pigmentosum Is a False Genodermatosis Inferred relationship Some
Epidermolysis bullosa Is a True Genodermatosis Inferred relationship Some
Rothmund-Thomson syndrome Is a True Genodermatosis Inferred relationship Some
Dyskeratosis congenita Is a False Genodermatosis Inferred relationship Some
Ectodermal dysplasia Is a True Genodermatosis Inferred relationship Some
Lethal tight skin contracture syndrome (disorder) Is a False Genodermatosis Inferred relationship Some
fibrofolliculomes multiples familiaux Is a False Genodermatosis Inferred relationship Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by aplasia cutis congenita of the scalp, breast anomalies ranging from hypothelia or athelia to amastia, and anomalies of the external ears. Variable clinical characteristics include nail and dental anomalies, syndactyly and camptodactyly of fingers and/or toes, sparse or absent secondary sexual hair, renal malformations, and facial dysmorphism. Cases with severe hypotonia and developmental delay have been reported. Is a False Genodermatosis Inferred relationship Some
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. Is a False Genodermatosis Inferred relationship Some
Congenital ichthyosis of skin Is a True Genodermatosis Inferred relationship Some
Hereditary benign acanthosis nigricans with insulin resistance Is a False Genodermatosis Inferred relationship Some
Hereditary benign acanthosis nigricans Is a False Genodermatosis Inferred relationship Some
Pachyonychia congenita syndrome Is a True Genodermatosis Inferred relationship Some
Congenital skin contracture Is a True Genodermatosis Inferred relationship Some
Acrokeratosis verruciformis of Hopf (disorder) Is a True Genodermatosis Inferred relationship Some
Atrichia congenita (disorder) Is a True Genodermatosis Inferred relationship Some
Keratosis palmaris et plantaris-clinodactyly syndrome is characterized by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant. Is a True Genodermatosis Inferred relationship Some
A rare genodermatosis disease with great phenotypic variation and characterised most commonly by ichthyosis following the lines of Blaschko, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature. Is a True Genodermatosis Inferred relationship Some
Ichthyosis hystrix Is a True Genodermatosis Inferred relationship Some

This concept is not in any reference sets

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