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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
5402444013 A rare multiple congenital malformation syndrome, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicoureteral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastroesophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis, etc.) have also been reported. An overlap with Kabuki syndrome is debated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402445014 A rare multiple congenital malformation syndrome, characterised by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicoureteral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastro-oesophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis, etc.) have also been reported. An overlap with Kabuki syndrome is debated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3321615010 Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
5402444013 A rare multiple congenital malformation syndrome, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicoureteral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastroesophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis, etc.) have also been reported. An overlap with Kabuki syndrome is debated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402445014 A rare multiple congenital malformation syndrome, characterised by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicoureteral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastro-oesophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis, etc.) have also been reported. An overlap with Kabuki syndrome is debated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
528391000274115 Cholestase-Pigmentretinopathie-Gaumenspalte-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3441431001000110 Hardikar-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5786401000241110 syndrome de cholestase, rétinopathie pigmentaire et fente palatine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5786411000241112 syndrome de Hardikar fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5786401000241110 syndrome de cholestase, rétinopathie pigmentaire et fente palatine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5786411000241112 syndrome de Hardikar fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
528391000274115 Cholestase-Pigmentretinopathie-Gaumenspalte-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3441431001000110 Hardikar-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
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Finding site Urinary system structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 9
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Is a Cholestasis true Inferred relationship Existential restriction modifier (core metadata concept)
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Is a Cleft palate with cleft lip true Inferred relationship Existential restriction modifier (core metadata concept)
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Is a Congenital anomaly of liver true Inferred relationship Existential restriction modifier (core metadata concept)
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Is a Retinal pigment deposits (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Is a Congenital malformation of the urinary system true Inferred relationship Existential restriction modifier (core metadata concept)
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Associated morphology Congenital failure of fusion false Inferred relationship Existential restriction modifier (core metadata concept) 6
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Finding site Lip structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 6
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 7
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 7
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 8
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 9
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 10
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Associated morphology Congenital failure of fusion false Inferred relationship Existential restriction modifier (core metadata concept) 8
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 9
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Associated morphology Deposition false Inferred relationship Existential restriction modifier (core metadata concept) 10
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Finding site Retinal structure false Inferred relationship Existential restriction modifier (core metadata concept) 10
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Finding site Liver structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 7
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Finding site Palatal structure false Inferred relationship Existential restriction modifier (core metadata concept) 8
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Finding site Lip structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Finding site Palatal structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Finding site Retinal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Associated morphology Deposition false Inferred relationship Existential restriction modifier (core metadata concept) 2
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Finding site Lip structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 5
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Is a Congenital anomaly of retina true Inferred relationship Existential restriction modifier (core metadata concept)
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Finding site Palatal structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Finding site Urinary system structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Finding site Liver structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Associated morphology Structure showing abnormal deposition of pigment (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Finding site Bone structure of head false Inferred relationship Existential restriction modifier (core metadata concept) 6
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 6
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 6
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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