FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.24  |  FHIR Version n/a  User: [n/a]

721221000: Hirschsprung disease with deafness and polydactyly syndrome (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
3324656012 Hirschsprung disease with deafness and polydactyly syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module
3324657015 Hirschsprung disease with deafness and polydactyly syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
3324658013 Santos Mateus Leal 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 deafness and polydactyly syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Existential restriction modifier
Hirschsprung disease with deafness and polydactyly syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Hirschsprung disease with deafness and polydactyly syndrome Is a Hirschsprung's disease true Inferred relationship Existential restriction modifier
Hirschsprung disease with deafness and polydactyly syndrome Is a Hearing loss associated with syndrome true Inferred relationship Existential restriction modifier
Hirschsprung disease with deafness and polydactyly syndrome Is a Auditory system hereditary disorder true Inferred relationship Existential restriction modifier
Hirschsprung disease with deafness and polydactyly syndrome Is a Digestive system hereditary disorder true Inferred relationship Existential restriction modifier
Hirschsprung disease with deafness and polydactyly syndrome Is a Polydactyly true Inferred relationship Existential restriction modifier
Hirschsprung disease with deafness and polydactyly syndrome Finding site Parasympathetic nervous system structure false Inferred relationship Existential restriction modifier
Hirschsprung disease with deafness and polydactyly syndrome Finding site Autonomic nerve structure true Inferred relationship Existential restriction modifier 4
Hirschsprung disease with deafness and polydactyly syndrome Finding site Ear structure false Inferred relationship Existential restriction modifier 5
Hirschsprung disease with deafness and polydactyly syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 8
Hirschsprung disease with deafness and polydactyly syndrome Finding site Colon structure false Inferred relationship Existential restriction modifier 8
Hirschsprung disease with deafness and polydactyly syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 9
Hirschsprung disease with deafness and polydactyly syndrome Finding site Colon structure false Inferred relationship Existential restriction modifier 9
Hirschsprung disease with deafness and polydactyly syndrome Associated morphology Congenital dilatation false Inferred relationship Existential restriction modifier 8
Hirschsprung disease with deafness and polydactyly syndrome Associated morphology Congenital hypertrophy false Inferred relationship Existential restriction modifier 9
Hirschsprung disease with deafness and polydactyly syndrome Is a Inherited autonomic nervous system disorder true Inferred relationship Existential restriction modifier
Hirschsprung disease with deafness and polydactyly syndrome Is a Congenital dilatation of colon true Inferred relationship Existential restriction modifier
Hirschsprung disease with deafness and polydactyly syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 10
Hirschsprung disease with deafness and polydactyly syndrome Associated morphology Supernumerary structure false Inferred relationship Existential restriction modifier 10
Hirschsprung disease with deafness and polydactyly syndrome Finding site Digit structure false Inferred relationship Existential restriction modifier 10
Hirschsprung disease with deafness and polydactyly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Hirschsprung disease with deafness and polydactyly syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Hirschsprung disease with deafness and polydactyly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 3
Hirschsprung disease with deafness and polydactyly syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Hirschsprung disease with deafness and polydactyly syndrome Finding site Colon structure true Inferred relationship Existential restriction modifier 2
Hirschsprung disease with deafness and polydactyly syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 3
Hirschsprung disease with deafness and polydactyly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Hirschsprung disease with deafness and polydactyly syndrome Finding site Colon structure true Inferred relationship Existential restriction modifier 3
Hirschsprung disease with deafness and polydactyly syndrome Associated morphology Congenital dilatation false Inferred relationship Existential restriction modifier 3
Hirschsprung disease with deafness and polydactyly syndrome Associated morphology Supernumerary structure true Inferred relationship Existential restriction modifier 1
Hirschsprung disease with deafness and polydactyly syndrome Finding site Digit structure true Inferred relationship Existential restriction modifier 1
Hirschsprung disease with deafness and polydactyly syndrome Associated morphology Hypertrophy true Inferred relationship Existential restriction modifier 2
Hirschsprung disease with deafness and polydactyly syndrome Associated morphology Dilatation true Inferred relationship Existential restriction modifier 3
Hirschsprung disease with deafness and polydactyly syndrome Finding site Structure of auditory system true Inferred relationship Existential restriction modifier 5
Hirschsprung disease with deafness and polydactyly syndrome Interprets Hearing, function true Inferred relationship Existential restriction modifier 6
Hirschsprung disease with deafness and polydactyly syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 4
Hirschsprung disease with deafness and polydactyly syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 4
Hirschsprung disease with deafness and polydactyly syndrome Is a Congenital hearing disorder true Inferred relationship Existential restriction modifier
Hirschsprung disease with deafness and polydactyly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 5
Hirschsprung disease with deafness and polydactyly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 4
Hirschsprung disease with deafness and polydactyly syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Hirschsprung disease with deafness and polydactyly syndrome Finding site Structure of peripheral part of autonomic nervous system true Inferred relationship Existential restriction modifier 7
Hirschsprung disease with deafness and polydactyly syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 7
Hirschsprung disease with deafness and polydactyly syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 7
Hirschsprung disease with deafness and polydactyly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 7

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start