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725908007: Neurofaciodigitorenal syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3446329014 Neurofaciodigitorenal syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3446330016 Neurofaciodigitorenal syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3446331017 Freire Maia Pinheiro Opitz syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
3446332012 NFDR (neurofaciodigitorenal) syndrome en Synonym Active Entire term case sensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Neurofaciodigitorenal syndrome Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Existential restriction modifier
Neurofaciodigitorenal syndrome Is a Congenital anomaly of the kidney true Inferred relationship Existential restriction modifier
Neurofaciodigitorenal syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Neurofaciodigitorenal syndrome Is a Mental retardation false Inferred relationship Existential restriction modifier
Neurofaciodigitorenal syndrome Is a Congenital anomaly of digit true Inferred relationship Existential restriction modifier
Neurofaciodigitorenal syndrome Is a Hereditary nephropathy true Inferred relationship Existential restriction modifier
Neurofaciodigitorenal syndrome Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 3
Neurofaciodigitorenal syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 3
Neurofaciodigitorenal syndrome Finding site Digit structure false Inferred relationship Existential restriction modifier 3
Neurofaciodigitorenal syndrome Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 4
Neurofaciodigitorenal syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 4
Neurofaciodigitorenal syndrome Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 5
Neurofaciodigitorenal syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 5
Neurofaciodigitorenal syndrome Finding site Face structure false Inferred relationship Existential restriction modifier 4
Neurofaciodigitorenal syndrome Finding site Kidney structure false Inferred relationship Existential restriction modifier 5
Neurofaciodigitorenal syndrome Finding site Kidney structure true Inferred relationship Existential restriction modifier 3
Neurofaciodigitorenal syndrome Is a Intellectual disability true Inferred relationship Existential restriction modifier
Neurofaciodigitorenal syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 1
Neurofaciodigitorenal syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 2
Neurofaciodigitorenal syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Neurofaciodigitorenal syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Neurofaciodigitorenal syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Neurofaciodigitorenal syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 3
Neurofaciodigitorenal syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Neurofaciodigitorenal syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 3
Neurofaciodigitorenal syndrome Finding site Face structure true Inferred relationship Existential restriction modifier 1
Neurofaciodigitorenal syndrome Finding site Digit structure true Inferred relationship Existential restriction modifier 2
Neurofaciodigitorenal syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Neurofaciodigitorenal syndrome Interprets Intellectual ability true Inferred relationship Existential restriction modifier 4
Neurofaciodigitorenal syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 4
Neurofaciodigitorenal syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier 5
Neurofaciodigitorenal syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 5

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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