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1144442009: Congenital hypoplasia of nail unit (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Apr 2025. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4541990014 Congenital hypoplasia of nail unit (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5444214014 Congenital hypoplasia of nail unit en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core


6 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital hypoplasia of nail unit (disorder) Finding site Nail unit is a complex structure which consists of nail plate, nail bed, nail root and skin around the nail plate. true Inferred relationship Some 1
Congenital hypoplasia of nail unit (disorder) Associated morphology Hypoplasia true Inferred relationship Some 1
Congenital hypoplasia of nail unit (disorder) Is a Congenital hypoplasia of limb (disorder) true Inferred relationship Some
Congenital hypoplasia of nail unit (disorder) Is a Congenital anomaly of nail true Inferred relationship Some
Congenital hypoplasia of nail unit (disorder) Occurrence Congenital true Inferred relationship Some 1
Congenital hypoplasia of nail unit (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital hypoplasia of nail unit (disorder) Is a Congenital hypoplasia of skin (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital hypoplasia of nail unit of thumb (disorder) Is a True Congenital hypoplasia of nail unit (disorder) Inferred relationship Some
Congenital hypoplasia of nail unit of little finger (disorder) Is a True Congenital hypoplasia of nail unit (disorder) Inferred relationship Some
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterised by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988. Is a True Congenital hypoplasia of nail unit (disorder) Inferred relationship Some
A rare ectodermal dysplasia syndrome characterized by hypotrichosis, tooth enamel hypoplasia, hypoplastic nails, palmoplantar keratoderma, hyperhidrosis on hands, face, and scalp, bilateral partial cutaneous syndactyly, and dysmorphic facial features with large prominent ear pinnae, pointed nose, and thin upper lips. Association of cardiomegaly has also been reported. Is a True Congenital hypoplasia of nail unit (disorder) Inferred relationship Some
Congenital hypoplasia of nail unit of toe (disorder) Is a True Congenital hypoplasia of nail unit (disorder) Inferred relationship Some

This concept is not in any reference sets

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