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722063009: Odonto-tricho-ungual-digito-palmar syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3330434019 Odonto-tricho-ungual-digito-palmar syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330435018 Odonto-tricho-ungual-digito-palmar syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330436017 Odontotrichoungual-digital-palmar syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330437014 Odonto-tricho-ungual-digito-palmar syndrome Mendoza-Valiente type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5402813012 A rare ectodermal dysplasia syndrome characterized by neonatal teeth, trichodystrophy (with straw-like, discolored and fragile hair), onychodystrophy, and malformation of the hands and feet consisting of simian-like hands with transverse palmar creases and prominent interdigital folds, brachydactyly, and marked shortness of the first metacarpal and metatarsal bones with hypoplasia of the distal phalanges. There have been no further descriptions in the literature since 1997. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402814018 A rare ectodermal dysplasia syndrome characterised by neonatal teeth, trichodystrophy (with straw-like, discoloured and fragile hair), onychodystrophy, and malformation of the hands and feet consisting of simian-like hands with transverse palmar creases and prominent interdigital folds, brachydactyly, and marked shortness of the first metacarpal and metatarsal bones with hypoplasia of the distal phalanges. There have been no further descriptions in the literature since 1997. 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
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Is a Ectodermal dysplasia with hair-tooth defects false Inferred relationship Some
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Is a Digestive system hereditary disorder (disorder) false Inferred relationship Some
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Is a Congenital anomaly of tooth (disorder) false Inferred relationship Some
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Finding site Skin structure true Inferred relationship Some 3
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 4
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Finding site Skin structure false Inferred relationship Some 4
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 5
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 3
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Finding site Ectoderm structure false Inferred relationship Some 3
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Finding site Tooth structure false Inferred relationship Some 5
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Occurrence Congenital false Inferred relationship Some 1
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 2
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 1
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Finding site Tooth structure true Inferred relationship Some 1
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Finding site Ectoderm structure true Inferred relationship Some 2
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 2
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Finding site Hair structure (body structure) false Inferred relationship Some 3
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Is a Hereditary disorder of tooth true Inferred relationship Some
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Is a Ectodermal dysplasia true Inferred relationship Some
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Occurrence Neonatal true Inferred relationship Some 1
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Associated morphology Maturation acceleration true Inferred relationship Some 1
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Is a Neonatal tooth true Inferred relationship Some
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Interprets Eruption of tooth true Inferred relationship Some 4
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Has interpretation Abnormal true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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