FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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
358175015 Genodermatosis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
998541000241118 génodermatose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

313 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Genodermatosis Is a Congenital anomaly of skin (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Genodermatosis Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Genodermatosis Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Genodermatosis Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Genodermatosis Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Genodermatosis Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Genodermatosis Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Genodermatosis Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Genodermatosis Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Genodermatosis Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Genodermatosis Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Genodermatosis Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Pachydermoperiostosis of nail Is a True Genodermatosis Inferred relationship Existential restriction modifier (core metadata concept)
Familial multiple tumor syndrome Is a False Genodermatosis Inferred relationship Existential restriction modifier (core metadata concept)
Multiple benign annular creases of extremities Is a True Genodermatosis Inferred relationship Existential restriction modifier (core metadata concept)
Reticulate pigmented anomaly of flexures Is a True Genodermatosis Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary clubbing Is a True Genodermatosis Inferred relationship Existential restriction modifier (core metadata concept)
Cutaneous syndrome with ichthyosis Is a False Genodermatosis Inferred relationship Existential restriction modifier (core metadata concept)
Inherited cutaneous hyperpigmentation Is a True Genodermatosis Inferred relationship Existential restriction modifier (core metadata concept)
Inherited disorder of keratinisation Is a False Genodermatosis Inferred relationship Existential restriction modifier (core metadata concept)
Familial focal facial dermal dysplasia Is a False Genodermatosis Inferred relationship Existential restriction modifier (core metadata concept)
Congenital clubbing Is a False Genodermatosis Inferred relationship Existential restriction modifier (core metadata concept)
Albinism Is a False Genodermatosis Inferred relationship Existential restriction modifier (core metadata concept)
Xeroderma pigmentosum (disorder) Is a False Genodermatosis Inferred relationship Existential restriction modifier (core metadata concept)
Epidermolysis bullosa (disorder) Is a True Genodermatosis Inferred relationship Existential restriction modifier (core metadata concept)
Rothmund-Thomson syndrome Is a True Genodermatosis Inferred relationship Existential restriction modifier (core metadata concept)
Dyskeratosis congenita Is a False Genodermatosis Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia Is a True Genodermatosis Inferred relationship Existential restriction modifier (core metadata concept)
Lethal tight skin contracture syndrome (disorder) Is a False Genodermatosis Inferred relationship Existential restriction modifier (core metadata concept)
fibrofolliculomes multiples familiaux Is a False Genodermatosis Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
Congenital ichthyosis of skin Is a True Genodermatosis Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary benign acanthosis nigricans with insulin resistance Is a False Genodermatosis Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary benign acanthosis nigricans (disorder) Is a False Genodermatosis Inferred relationship Existential restriction modifier (core metadata concept)
Pachyonychia congenita syndrome Is a True Genodermatosis Inferred relationship Existential restriction modifier (core metadata concept)
Congenital skin contracture Is a True Genodermatosis Inferred relationship Existential restriction modifier (core metadata concept)
Acrokeratosis verruciformis of Hopf (disorder) Is a True Genodermatosis Inferred relationship Existential restriction modifier (core metadata concept)
Atrichia congenita Is a True Genodermatosis Inferred relationship Existential restriction modifier (core metadata concept)
Palmoplantar keratoderma with clinodactyly syndrome (disorder) Is a True Genodermatosis Inferred relationship Existential restriction modifier (core metadata concept)
Chondrodysplasia punctata, X-linked dominant type (disorder) Is a True Genodermatosis Inferred relationship Existential restriction modifier (core metadata concept)
Ichthyosis hystrix (disorder) Is a True Genodermatosis Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

Back to Start