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720458005: Acrorenal 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
3320829017 Acrorenal syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3320830010 Acrorenal syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5402335011 A spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402336012 A spectrum of congenital malformative disorders characterised by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3320829017 Acrorenal syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3320829017 Acrorenal syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3320830010 Acrorenal syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3320830010 Acrorenal syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3320831014 Acrorenal syndrome comprises a wide spectrum of congenital malformation disorders with characteristics of the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (for example unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract, abdominal well defects, intestinal atresia and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402335011 A spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402336012 A spectrum of congenital malformative disorders characterised by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3438391001000110 Akrorenales Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
911301000172110 syndrome acro-rénal fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
911301000172110 syndrome acro-rénal fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3438391001000110 Akrorenales 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
Acrorenal syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Acrorenal syndrome Is a Congenital anomaly of the kidney true Inferred relationship Existential restriction modifier (core metadata concept)
Acrorenal syndrome Is a Congenital anomaly of limb true Inferred relationship Existential restriction modifier (core metadata concept)
Acrorenal syndrome Is a Hereditary nephropathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Acrorenal syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Acrorenal syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Acrorenal syndrome Finding site Kidney structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Acrorenal syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
Acrorenal syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Acrorenal syndrome Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Acrorenal syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Acrorenal syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Acrorenal syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Acrorenal syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Acrorenal syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Acrorenal syndrome Finding site Limb structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Acrorenal syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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