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


Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3704812013 PARC syndrome en Synonym Active Case sensitive SNOMED CT core
3704816011 Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3704817019 Poikiloderma, alopecia, retrognathism, cleft palate syndrome en Synonym Active Case insensitive SNOMED CT core
3704818012 PARC (poikiloderma, alopecia, retrognathism, cleft palate) syndrome en Synonym Active Case sensitive 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 Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Finding site Palatal structure true Inferred relationship Some 1
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Associated morphology Developmental failure of fusion true Inferred relationship Some 1
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Finding site Skin structure true Inferred relationship Some 4
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Associated morphology Poikiloderma true Inferred relationship Some 4
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Associated morphology Congenital absence false Inferred relationship Some 3
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Finding site Hair structure true Inferred relationship Some 3
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Is a Congenital anomaly of skin false Inferred relationship Some
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Pathological process Pathological developmental process true Inferred relationship Some 4
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Associated morphology Recession true Inferred relationship Some 5
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Pathological process Pathological developmental process true Inferred relationship Some 5
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Finding site Bone structure of jaw true Inferred relationship Some 5
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Occurrence Congenital true Inferred relationship Some 5
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Associated morphology Posterior displacement true Inferred relationship Some 2
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Finding site Bone structure of head false Inferred relationship Some 6
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Occurrence Congenital false Inferred relationship Some 6
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Pathological process Pathological developmental process false Inferred relationship Some 6
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Associated morphology Developmental failure of fusion false Inferred relationship Some 6
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Associated morphology Absence true Inferred relationship Some 3
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Is a Hereditary disorder of the integument true Inferred relationship Some
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Is a Congenital alopecia true Inferred relationship Some
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Is a Digestive system hereditary disorder false Inferred relationship Some
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Is a Cleft palate true Inferred relationship Some
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Occurrence Congenital true Inferred relationship Some 3
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Is a Congenital retrognathism true Inferred relationship Some
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Occurrence Congenital true Inferred relationship Some 4
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Occurrence Congenital true Inferred relationship Some 1
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Is a Poikiloderma true Inferred relationship Some
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Occurrence Congenital true Inferred relationship Some 2
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Finding site Bone structure of jaw true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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