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771186004: Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3704812013 PARC syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3704816011 Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3704817019 Poikiloderma, alopecia, retrognathism, cleft palate syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3704818012 PARC (poikiloderma, alopecia, retrognathism, cleft palate) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3705163018 A rare genetic developmental defect during embryogenesis. A syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3705164012 A rare genetic developmental defect during embryogenesis. A syndrome characterised by the association of congenital poikiloderma (P), generalised alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990. 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
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) localisation d'une constatation (attribut) Palatal structure true Inferred relationship Some 1
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 1
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) localisation d'une constatation (attribut) structure de la peau true Inferred relationship Some 4
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) morphologie associée (attribut) Poikiloderma true Inferred relationship Some 4
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) morphologie associée (attribut) Congenital absence false Inferred relationship Some 3
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) localisation d'une constatation (attribut) Hair structure (body structure) true Inferred relationship Some 3
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) est un(e) (attribut) Congenital anomaly of skin false Inferred relationship Some
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) morphologie associée (attribut) Recession true Inferred relationship Some 5
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) localisation d'une constatation (attribut) Bone structure of jaw (body structure) true Inferred relationship Some 5
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 5
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) morphologie associée (attribut) Posterior displacement true Inferred relationship Some 2
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) localisation d'une constatation (attribut) structure osseuse de la tête (structure corporelle) false Inferred relationship Some 6
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 6
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 6
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) morphologie associée (attribut) Absence (morphologic abnormality) true Inferred relationship Some 3
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) est un(e) (attribut) Hereditary disorder of the integument true Inferred relationship Some
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) est un(e) (attribut) Congenital alopecia true Inferred relationship Some
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) est un(e) (attribut) Digestive system hereditary disorder false Inferred relationship Some
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) est un(e) (attribut) fente palatine true Inferred relationship Some
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) est un(e) (attribut) Congenital retrognathism true Inferred relationship Some
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) est un(e) (attribut) Poikiloderma (disorder) true Inferred relationship Some
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) localisation d'une constatation (attribut) Bone structure of jaw (body structure) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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