FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.2  |  FHIR Version n/a  User: [n/a]

721221000: Hirschsprung disease with deafness and polydactyly syndrome (disorder)


Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3324656012 Hirschsprung disease with deafness and polydactyly syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core
3324657015 Hirschsprung disease with deafness and polydactyly syndrome en Synonym Active Case sensitive SNOMED CT core
3324658013 Santos Mateus Leal syndrome en Synonym Active Case sensitive SNOMED CT core
3324659017 An extremely rare malformative association, described in only two siblings to date with characteristics of Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to the symptoms of intestinal obstruction including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hirschsprung disease with deafness and polydactyly syndrome Occurrence Congenital true Inferred relationship Some 2
Hirschsprung disease with deafness and polydactyly syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Hirschsprung disease with deafness and polydactyly syndrome Occurrence Congenital true Inferred relationship Some 3
Hirschsprung disease with deafness and polydactyly syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Hirschsprung disease with deafness and polydactyly syndrome Finding site Colon structure true Inferred relationship Some 2
Hirschsprung disease with deafness and polydactyly syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Hirschsprung disease with deafness and polydactyly syndrome Occurrence Congenital true Inferred relationship Some 1
Hirschsprung disease with deafness and polydactyly syndrome Finding site Colon structure true Inferred relationship Some 3
Hirschsprung disease with deafness and polydactyly syndrome Associated morphology Congenital dilatation false Inferred relationship Some 3
Hirschsprung disease with deafness and polydactyly syndrome Associated morphology Supernumerary structure true Inferred relationship Some 1
Hirschsprung disease with deafness and polydactyly syndrome Finding site Digit structure true Inferred relationship Some 1
Hirschsprung disease with deafness and polydactyly syndrome Associated morphology Hypertrophy true Inferred relationship Some 2
Hirschsprung disease with deafness and polydactyly syndrome Associated morphology Dilatation true Inferred relationship Some 3
Hirschsprung disease with deafness and polydactyly syndrome Finding site Structure of auditory system true Inferred relationship Some 5
Hirschsprung disease with deafness and polydactyly syndrome Interprets Hearing true Inferred relationship Some 6
Hirschsprung disease with deafness and polydactyly syndrome Pathological process Pathological developmental process true Inferred relationship Some 4
Hirschsprung disease with deafness and polydactyly syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 4
Hirschsprung disease with deafness and polydactyly syndrome Is a Congenital hearing disorder true Inferred relationship Some
Hirschsprung disease with deafness and polydactyly syndrome Occurrence Congenital true Inferred relationship Some 5
Hirschsprung disease with deafness and polydactyly syndrome Occurrence Congenital true Inferred relationship Some 4
Hirschsprung disease with deafness and polydactyly syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Hirschsprung disease with deafness and polydactyly syndrome Finding site Structure of peripheral part of autonomic nervous system true Inferred relationship Some 7
Hirschsprung disease with deafness and polydactyly syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 7
Hirschsprung disease with deafness and polydactyly syndrome Pathological process Pathological developmental process true Inferred relationship Some 7
Hirschsprung disease with deafness and polydactyly syndrome Occurrence Congenital true Inferred relationship Some 7
Hirschsprung disease with deafness and polydactyly syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Hirschsprung disease with deafness and polydactyly syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Hirschsprung disease with deafness and polydactyly syndrome Is a Hirschsprung's disease true Inferred relationship Some
Hirschsprung disease with deafness and polydactyly syndrome Is a Hearing loss associated with syndrome true Inferred relationship Some
Hirschsprung disease with deafness and polydactyly syndrome Is a Auditory system hereditary disorder true Inferred relationship Some
Hirschsprung disease with deafness and polydactyly syndrome Is a Digestive system hereditary disorder true Inferred relationship Some
Hirschsprung disease with deafness and polydactyly syndrome Is a Polydactyly true Inferred relationship Some
Hirschsprung disease with deafness and polydactyly syndrome Finding site Parasympathetic nervous system structure false Inferred relationship Some
Hirschsprung disease with deafness and polydactyly syndrome Finding site Autonomic nerve structure true Inferred relationship Some 4
Hirschsprung disease with deafness and polydactyly syndrome Finding site Ear structure false Inferred relationship Some 5
Hirschsprung disease with deafness and polydactyly syndrome Occurrence Congenital false Inferred relationship Some 8
Hirschsprung disease with deafness and polydactyly syndrome Finding site Colon structure false Inferred relationship Some 8
Hirschsprung disease with deafness and polydactyly syndrome Occurrence Congenital false Inferred relationship Some 9
Hirschsprung disease with deafness and polydactyly syndrome Finding site Colon structure false Inferred relationship Some 9
Hirschsprung disease with deafness and polydactyly syndrome Associated morphology Congenital dilatation false Inferred relationship Some 8
Hirschsprung disease with deafness and polydactyly syndrome Associated morphology Congenital hypertrophy false Inferred relationship Some 9
Hirschsprung disease with deafness and polydactyly syndrome Is a Inherited autonomic nervous system disorder true Inferred relationship Some
Hirschsprung disease with deafness and polydactyly syndrome Is a Congenital dilatation of colon true Inferred relationship Some
Hirschsprung disease with deafness and polydactyly syndrome Occurrence Congenital false Inferred relationship Some 10
Hirschsprung disease with deafness and polydactyly syndrome Associated morphology Supernumerary structure false Inferred relationship Some 10
Hirschsprung disease with deafness and polydactyly syndrome Finding site Digit structure false Inferred relationship Some 10

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start