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721223002: Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
3324663012 Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module
3324664018 Hirschsprung disease with nail hypoplasia and dysmorphism en Synonym Active Entire term case sensitive SNOMED CT core module
3324665017 Al Gazali Donnai Muller 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
Hirschsprung disease with nail hypoplasia and dysmorphism Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 9
Hirschsprung disease with nail hypoplasia and dysmorphism Is a Congenital anomaly of face bones true Inferred relationship Existential restriction modifier
Hirschsprung disease with nail hypoplasia and dysmorphism Is a Congenital anomaly of nail true Inferred relationship Existential restriction modifier
Hirschsprung disease with nail hypoplasia and dysmorphism Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier
Hirschsprung disease with nail hypoplasia and dysmorphism Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Hirschsprung disease with nail hypoplasia and dysmorphism Is a Hirschsprung's disease true Inferred relationship Existential restriction modifier
Hirschsprung disease with nail hypoplasia and dysmorphism Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier
Hirschsprung disease with nail hypoplasia and dysmorphism Is a Digestive system hereditary disorder true Inferred relationship Existential restriction modifier
Hirschsprung disease with nail hypoplasia and dysmorphism Is a Hereditary disorder of the integument true Inferred relationship Existential restriction modifier
Hirschsprung disease with nail hypoplasia and dysmorphism Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier
Hirschsprung disease with nail hypoplasia and dysmorphism Finding site Parasympathetic nervous system structure false Inferred relationship Existential restriction modifier
Hirschsprung disease with nail hypoplasia and dysmorphism Finding site Autonomic nerve structure true Inferred relationship Existential restriction modifier 5
Hirschsprung disease with nail hypoplasia and dysmorphism Occurrence Congenital false Inferred relationship Existential restriction modifier 8
Hirschsprung disease with nail hypoplasia and dysmorphism Occurrence Congenital false Inferred relationship Existential restriction modifier 9
Hirschsprung disease with nail hypoplasia and dysmorphism Occurrence Congenital false Inferred relationship Existential restriction modifier 10
Hirschsprung disease with nail hypoplasia and dysmorphism Associated morphology Congenital hypertrophy false Inferred relationship Existential restriction modifier 10
Hirschsprung disease with nail hypoplasia and dysmorphism Finding site Colon structure false Inferred relationship Existential restriction modifier 10
Hirschsprung disease with nail hypoplasia and dysmorphism Associated morphology Congenital dilatation false Inferred relationship Existential restriction modifier 8
Hirschsprung disease with nail hypoplasia and dysmorphism Finding site Colon structure false Inferred relationship Existential restriction modifier 8
Hirschsprung disease with nail hypoplasia and dysmorphism Finding site Bone structure of face false Inferred relationship Existential restriction modifier 9
Hirschsprung disease with nail hypoplasia and dysmorphism Is a Inherited autonomic nervous system disorder true Inferred relationship Existential restriction modifier
Hirschsprung disease with nail hypoplasia and dysmorphism Is a Congenital dilatation of colon true Inferred relationship Existential restriction modifier
Hirschsprung disease with nail hypoplasia and dysmorphism Occurrence Congenital false Inferred relationship Existential restriction modifier 11
Hirschsprung disease with nail hypoplasia and dysmorphism Associated morphology Congenital hypoplasia false Inferred relationship Existential restriction modifier 11
Hirschsprung disease with nail hypoplasia and dysmorphism Finding site Nail structure false Inferred relationship Existential restriction modifier 11
Hirschsprung disease with nail hypoplasia and dysmorphism Occurrence Congenital true Inferred relationship Existential restriction modifier 4
Hirschsprung disease with nail hypoplasia and dysmorphism Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 3
Hirschsprung disease with nail hypoplasia and dysmorphism Occurrence Congenital true Inferred relationship Existential restriction modifier 3
Hirschsprung disease with nail hypoplasia and dysmorphism Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Hirschsprung disease with nail hypoplasia and dysmorphism Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Hirschsprung disease with nail hypoplasia and dysmorphism Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 4
Hirschsprung disease with nail hypoplasia and dysmorphism Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Hirschsprung disease with nail hypoplasia and dysmorphism Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Hirschsprung disease with nail hypoplasia and dysmorphism Finding site Colon structure true Inferred relationship Existential restriction modifier 4
Hirschsprung disease with nail hypoplasia and dysmorphism Finding site Colon structure true Inferred relationship Existential restriction modifier 2
Hirschsprung disease with nail hypoplasia and dysmorphism Finding site Bone structure of face true Inferred relationship Existential restriction modifier 1
Hirschsprung disease with nail hypoplasia and dysmorphism Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 1
Hirschsprung disease with nail hypoplasia and dysmorphism Associated morphology Hypertrophy true Inferred relationship Existential restriction modifier 2
Hirschsprung disease with nail hypoplasia and dysmorphism Associated morphology Congenital dilatation false Inferred relationship Existential restriction modifier 5
Hirschsprung disease with nail hypoplasia and dysmorphism Occurrence Congenital true Inferred relationship Existential restriction modifier 5
Hirschsprung disease with nail hypoplasia and dysmorphism Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 5
Hirschsprung disease with nail hypoplasia and dysmorphism Finding site Large intestine part false Inferred relationship Existential restriction modifier 5
Hirschsprung disease with nail hypoplasia and dysmorphism Is a Disorder of colon false Inferred relationship Existential restriction modifier
Hirschsprung disease with nail hypoplasia and dysmorphism Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier 3
Hirschsprung disease with nail hypoplasia and dysmorphism Associated morphology Dilatation true Inferred relationship Existential restriction modifier 4
Hirschsprung disease with nail hypoplasia and dysmorphism Finding site Nail unit structure true Inferred relationship Existential restriction modifier 3
Hirschsprung disease with nail hypoplasia and dysmorphism Is a Genetic disorder of nail true Inferred relationship Existential restriction modifier
Hirschsprung disease with nail hypoplasia and dysmorphism Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 5
Hirschsprung disease with nail hypoplasia and dysmorphism Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Hirschsprung disease with nail hypoplasia and dysmorphism Finding site Structure of peripheral part of autonomic nervous system true Inferred relationship Existential restriction modifier 6
Hirschsprung disease with nail hypoplasia and dysmorphism Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 6
Hirschsprung disease with nail hypoplasia and dysmorphism Occurrence Congenital true Inferred relationship Existential restriction modifier 6
Hirschsprung disease with nail hypoplasia and dysmorphism Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 6
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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