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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
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
3414491001000118 PARC-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6476401000241111 syndrome de poïkilodermie, alopécie, rétrognathie et fente palatine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6476411000241113 syndrome PARC (poikiloderma, alopecia, retrognathism, cleft palate) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6476401000241111 syndrome de poïkilodermie, alopécie, rétrognathie et fente palatine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6476411000241113 syndrome PARC (poikiloderma, alopecia, retrognathism, cleft palate) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3414491001000118 PARC-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
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Is a Congenital alopecia true Inferred relationship Existential restriction modifier (core metadata concept)
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Is a Digestive system hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Is a Cleft palate true Inferred relationship Existential restriction modifier (core metadata concept)
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Is a Congenital retrognathism true Inferred relationship Existential restriction modifier (core metadata concept)
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Is a Poikiloderma (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Finding site Bone structure of jaw (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Finding site Palatal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Associated morphology Poikiloderma true Inferred relationship Existential restriction modifier (core metadata concept) 4
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Finding site Hair structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Is a Congenital anomaly of skin (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Associated morphology Recession true Inferred relationship Existential restriction modifier (core metadata concept) 5
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Finding site Bone structure of jaw (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Associated morphology Posterior displacement true Inferred relationship Existential restriction modifier (core metadata concept) 2
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Finding site Bone structure of head false Inferred relationship Existential restriction modifier (core metadata concept) 6
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 6
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 6
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Associated morphology Absence (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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