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239027006: Ectodermal dysplasia with hair-tooth defects (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
358207019 Ectodermal dysplasia with hair-tooth defects en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
627988011 Ectodermal dysplasia with hair-tooth defects (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
358207019 Ectodermal dysplasia with hair-tooth defects en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
358207019 Ectodermal dysplasia with hair-tooth defects en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
627988011 Ectodermal dysplasia with hair-tooth defects (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
627988011 Ectodermal dysplasia with hair-tooth defects (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5026731000241118 dysplasie ectodermique avec déficit de cheveux-dents fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5026731000241118 dysplasie ectodermique avec déficit de cheveux-dents fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


59 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ectodermal dysplasia with hair-tooth defects Is a Ectodermal dysplasia true Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with hair-tooth defects Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectodermal dysplasia with hair-tooth defects Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectodermal dysplasia with hair-tooth defects Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with hair-tooth defects Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with hair-tooth defects Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectodermal dysplasia with hair-tooth defects Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectodermal dysplasia with hair-tooth defects Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectodermal dysplasia with hair-tooth defects Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Ectodermal dysplasia with hair-tooth defects Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ectodermal dysplasia with hair-tooth defects Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Ectodermal dysplasia with hair-tooth defects Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ectodermal dysplasia with hair-tooth defects Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 3
Ectodermal dysplasia with hair-tooth defects Finding site Ectoderm structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Ectodermal dysplasia with hair-tooth defects Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectodermal dysplasia with hair-tooth defects Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ectodermal dysplasia with hair-tooth defects Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ectodermal dysplasia with hair-tooth defects Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectodermal dysplasia with hair-tooth defects Finding site Ectoderm structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectodermal dysplasia with hair-tooth defects Is a Congenital anomaly of hair true Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with hair-tooth defects Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ectodermal dysplasia with hair-tooth defects Finding site Tooth structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ectodermal dysplasia with hair-tooth defects Finding site Hair structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ectodermal dysplasia with hair-tooth defects Is a Congenital anomaly of tooth (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with hair-tooth defects Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3

Inbound Relationships Type Active Source Characteristic Refinability Group
Odontotrichomelic syndrome Is a False Ectodermal dysplasia with hair-tooth defects Inferred relationship Existential restriction modifier (core metadata concept)
Berlin syndrome Is a True Ectodermal dysplasia with hair-tooth defects Inferred relationship Existential restriction modifier (core metadata concept)
Flynn-Aird syndrome Is a True Ectodermal dysplasia with hair-tooth defects Inferred relationship Existential restriction modifier (core metadata concept)
Cranioectodermal dysplasia Is a True Ectodermal dysplasia with hair-tooth defects Inferred relationship Existential restriction modifier (core metadata concept)
Trichodental syndrome Is a True Ectodermal dysplasia with hair-tooth defects Inferred relationship Existential restriction modifier (core metadata concept)
Oculodentodigital syndrome Is a True Ectodermal dysplasia with hair-tooth defects Inferred relationship Existential restriction modifier (core metadata concept)
Oral-facial-digital syndrome Is a False Ectodermal dysplasia with hair-tooth defects Inferred relationship Existential restriction modifier (core metadata concept)
Johanson-Blizzard syndrome Is a True Ectodermal dysplasia with hair-tooth defects Inferred relationship Existential restriction modifier (core metadata concept)
Hallermann-Streiff syndrome (disorder) Is a True Ectodermal dysplasia with hair-tooth defects Inferred relationship Existential restriction modifier (core metadata concept)
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) Is a True Ectodermal dysplasia with hair-tooth defects Inferred relationship Existential restriction modifier (core metadata concept)
This syndrome has characteristics of congenital absence of the teeth and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families. Is a True Ectodermal dysplasia with hair-tooth defects Inferred relationship Existential restriction modifier (core metadata concept)
Contracture with ectodermal dysplasia and orofacial cleft syndrome Is a True Ectodermal dysplasia with hair-tooth defects Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by short stature and particularly pronounced shortening of the third to fifth metacarpals and metatarsals, congenital anodontia, sparse hair, dyspigmentation of the skin, hypoplastic nipples and underdeveloped external genitals in females, and multiple ocular abnormalities (such as distichiasis, strabismus, nystagmus, lenticular opacities, and severe myopia, among others). Dysmorphic craniofacial features include brachycephaly, downslanting palpebral fissures, broad nasal root, low-set ears, and small maxilla and prominent mandible. There have been no further descriptions in the literature since 1968. Is a True Ectodermal dysplasia with hair-tooth defects Inferred relationship Existential restriction modifier (core metadata concept)
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Is a False Ectodermal dysplasia with hair-tooth defects Inferred relationship Existential restriction modifier (core metadata concept)
Book syndrome (disorder) Is a False Ectodermal dysplasia with hair-tooth defects Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, severe visual impairment due to ocular malformations (microphthalmos and microcornea with sclerocornea), short stature, hypotrichosis, dental anomalies, and dysmorphic facial features (such as a narrow nasal bridge with marked distal flaring and low-set, protruding ears). There have been no further descriptions in the literature since 1992. Is a True Ectodermal dysplasia with hair-tooth defects Inferred relationship Existential restriction modifier (core metadata concept)
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Is a True Ectodermal dysplasia with hair-tooth defects Inferred relationship Existential restriction modifier (core metadata concept)
Conductive deafness, ptosis, skeletal anomalies syndrome Is a True Ectodermal dysplasia with hair-tooth defects Inferred relationship Existential restriction modifier (core metadata concept)
Pilodental dysplasia, refractive errors syndrome Is a True Ectodermal dysplasia with hair-tooth defects Inferred relationship Existential restriction modifier (core metadata concept)
Teebi Shaltout syndrome Is a True Ectodermal dysplasia with hair-tooth defects Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia syndactyly syndrome Is a True Ectodermal dysplasia with hair-tooth defects Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with hair-tooth-nail defects Is a True Ectodermal dysplasia with hair-tooth defects Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal syndrome with hair-tooth-sweating defects (disorder) Is a True Ectodermal dysplasia with hair-tooth defects Inferred relationship Existential restriction modifier (core metadata concept)
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder) Is a True Ectodermal dysplasia with hair-tooth defects Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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