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715404000: Ameloonychohypohidrotic syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3302487013 Ameloonychohypohidrotic syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302488015 Ameloonychohypohidrotic syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302489011 Amelo-onycho-hypohidrotic syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5400856013 A rare ectodermal dysplasia syndrome characterized by the association of hypocalcified and hypoplastic tooth enamel, distal finger and toenail onycholysis with subungual hyperkeratosis, and functional hypohidrosis. Additional manifestations include seborrheic scalp dermatitis and rough, dry skin. Lacrimal punctum may be occasionally absent. There have been no further descriptions in the literature since 1975. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400857016 A rare ectodermal dysplasia syndrome characterised by the association of hypocalcified and hypoplastic tooth enamel, distal finger and toenail onycholysis with subungual hyperkeratosis, and functional hypohidrosis. Additional manifestations include seborrhoeic scalp dermatitis and rough, dry skin. Lacrimal punctum may be occasionally absent. There have been no further descriptions in the literature since 1975. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ameloonychohypohidrotic syndrome (disorder) Is a Ectodermal dysplasia true Inferred relationship Some
Ameloonychohypohidrotic syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Ameloonychohypohidrotic syndrome (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some
Ameloonychohypohidrotic syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Ameloonychohypohidrotic syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Ameloonychohypohidrotic syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 2
Ameloonychohypohidrotic syndrome (disorder) Finding site Ectoderm structure true Inferred relationship Some 2
Ameloonychohypohidrotic syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 3
Ameloonychohypohidrotic syndrome (disorder) Finding site Skin structure false Inferred relationship Some 3
Ameloonychohypohidrotic syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Ameloonychohypohidrotic syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Ameloonychohypohidrotic syndrome (disorder) Finding site Skin structure true Inferred relationship Some 1
Ameloonychohypohidrotic syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Ameloonychohypohidrotic syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Ameloonychohypohidrotic syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 2
Ameloonychohypohidrotic syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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