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720636001: Cholestasis with pigmentary retinopathy and cleft palate 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
3321615010 Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3321616011 Cholestasis with pigmentary retinopathy and cleft palate syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3321617019 Hardikar syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3321618012 A syndrome of multiple congenital malformations with an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension) and obstructive renal disease (ectopic ureteric insertion, obstruction, hydronephrosis). Gastrointestinal tract and cardiac involvement have also been reported. An overlap with Kabuki syndrome is debated. 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
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) localisation d'une constatation (attribut) structure de la rétine true Inferred relationship Some 2
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) morphologie associée (attribut) Deposition false Inferred relationship Some 2
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 3
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 5
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) localisation d'une constatation (attribut) lèvre de la bouche (structure corporelle) true Inferred relationship Some 3
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 5
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) est un(e) (attribut) Congenital anomaly of retina (disorder) true Inferred relationship Some
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) localisation d'une constatation (attribut) Palatal structure true Inferred relationship Some 4
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 4
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) localisation d'une constatation (attribut) Urinary system structure true Inferred relationship Some 5
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) localisation d'une constatation (attribut) foie true Inferred relationship Some 1
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) morphologie associée (attribut) Structure showing abnormal deposition of pigment (morphologic abnormality) true Inferred relationship Some 2
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) localisation d'une constatation (attribut) structure osseuse de la tête (structure corporelle) false Inferred relationship Some 6
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 6
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 6
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) localisation d'une constatation (attribut) Urinary system structure false Inferred relationship Some 9
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) est un(e) (attribut) cholestase (constatation) true Inferred relationship Some
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) est un(e) (attribut) Cleft palate with cleft lip true Inferred relationship Some
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) est un(e) (attribut) Congenital anomaly of liver true Inferred relationship Some
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) est un(e) (attribut) dépôts pigmentaires rétiniens true Inferred relationship Some
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) est un(e) (attribut) Congenital malformation of the urinary system true Inferred relationship Some
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) morphologie associée (attribut) Congenital failure of fusion false Inferred relationship Some 6
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) localisation d'une constatation (attribut) lèvre de la bouche (structure corporelle) false Inferred relationship Some 6
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 7
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 7
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 8
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 9
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 10
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) morphologie associée (attribut) Congenital failure of fusion false Inferred relationship Some 8
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 9
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) morphologie associée (attribut) Deposition false Inferred relationship Some 10
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) localisation d'une constatation (attribut) structure de la rétine false Inferred relationship Some 10
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) localisation d'une constatation (attribut) foie false Inferred relationship Some 7
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) localisation d'une constatation (attribut) Palatal structure false Inferred relationship Some 8
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 1
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 2
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) localisation d'une constatation (attribut) lèvre de la bouche (structure corporelle) false Inferred relationship Some 1
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) localisation d'une constatation (attribut) Palatal structure false Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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