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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
3330434019 Odonto-tricho-ungual-digito-palmar syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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
3330438016 This syndrome has characteristics of neonatal teeth, trichodystrophy and malformations of the hands and feet. To date, it has been reported in 21 patients and is transmitted as an autosomal dominant trait. en Definition Active Entire term case sensitive (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
3428151001000119 Odonto-tricho-ungual-digito-palmares Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
953001000172118 syndrome odonto-tricho-unguéo-digito-palmaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
997571000172118 syndrome OTUDP (odonto-tricho-unguéo-digito-palmaire) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
953001000172118 syndrome odonto-tricho-unguéo-digito-palmaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
997571000172118 syndrome OTUDP (odonto-tricho-unguéo-digito-palmaire) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3428151001000119 Odonto-tricho-ungual-digito-palmares Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


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 Existential restriction modifier (core metadata concept)
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Is a Ectodermal dysplasia with hair-tooth defects false Inferred relationship Existential restriction modifier (core metadata concept)
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Is a Digestive system hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Is a Congenital anomaly of tooth (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 4
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 5
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 3
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Finding site Ectoderm structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Finding site Tooth structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Finding site Tooth structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Finding site Ectoderm structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 2
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Finding site Hair structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Is a Hereditary disorder of tooth true Inferred relationship Existential restriction modifier (core metadata concept)
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Is a Ectodermal dysplasia true Inferred relationship Existential restriction modifier (core metadata concept)
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Occurrence Neonatal true Inferred relationship Existential restriction modifier (core metadata concept) 1
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Associated morphology Maturation acceleration (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Is a Neonatal tooth true Inferred relationship Existential restriction modifier (core metadata concept)
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Interprets Eruption of tooth true Inferred relationship Existential restriction modifier (core metadata concept) 4
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Has interpretation Abnormal true Inferred relationship Existential restriction modifier (core metadata concept) 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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