FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.21  |  FHIR Version n/a  User: [n/a]

723611008: Split hand, split foot malformation with sensorineural hearing loss syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3498170014 Congenital deafness with split hands and feet en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498171013 Split hand, split foot malformation with sensorineural hearing loss syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498172018 Split hand, split foot malformation with sensorineural hearing loss syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3499905010 An extremely rare genetic syndrome with clinical characteristics of split hand/split foot malformation and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit. There is evidence this syndrome may be caused by homozygous mutation in the DLX5 gene on chromosome 7q21. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Split hand, split foot malformation with sensorineural hearing loss syndrome morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 3
Split hand, split foot malformation with sensorineural hearing loss syndrome survenue (attribut) congénital true Inferred relationship Some 1
Split hand, split foot malformation with sensorineural hearing loss syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
Split hand, split foot malformation with sensorineural hearing loss syndrome survenue (attribut) congénital true Inferred relationship Some 3
Split hand, split foot malformation with sensorineural hearing loss syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Split hand, split foot malformation with sensorineural hearing loss syndrome morphologie associée (attribut) Congenital absence false Inferred relationship Some 2
Split hand, split foot malformation with sensorineural hearing loss syndrome survenue (attribut) congénital false Inferred relationship Some 2
Split hand, split foot malformation with sensorineural hearing loss syndrome morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 1
Split hand, split foot malformation with sensorineural hearing loss syndrome localisation d'une constatation (attribut) Entire digit false Inferred relationship Some 2
Split hand, split foot malformation with sensorineural hearing loss syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Split hand, split foot malformation with sensorineural hearing loss syndrome localisation d'une constatation (attribut) main true Inferred relationship Some 3
Split hand, split foot malformation with sensorineural hearing loss syndrome localisation d'une constatation (attribut) pied (structure corporelle) true Inferred relationship Some 1
Split hand, split foot malformation with sensorineural hearing loss syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Split hand, split foot malformation with sensorineural hearing loss syndrome morphologie associée (attribut) Absence (morphologic abnormality) true Inferred relationship Some 5
Split hand, split foot malformation with sensorineural hearing loss syndrome localisation d'une constatation (attribut) Entire lesser toe true Inferred relationship Some 4
Split hand, split foot malformation with sensorineural hearing loss syndrome morphologie associée (attribut) Absence (morphologic abnormality) true Inferred relationship Some 4
Split hand, split foot malformation with sensorineural hearing loss syndrome localisation d'une constatation (attribut) Entire finger true Inferred relationship Some 5
Split hand, split foot malformation with sensorineural hearing loss syndrome survenue (attribut) congénital true Inferred relationship Some 5
Split hand, split foot malformation with sensorineural hearing loss syndrome est un(e) (attribut) Adactyly false Inferred relationship Some
Split hand, split foot malformation with sensorineural hearing loss syndrome survenue (attribut) congénital true Inferred relationship Some 4
Split hand, split foot malformation with sensorineural hearing loss syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Split hand, split foot malformation with sensorineural hearing loss syndrome localisation d'une constatation (attribut) structure du système auditif true Inferred relationship Some 6
Split hand, split foot malformation with sensorineural hearing loss syndrome est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Split hand, split foot malformation with sensorineural hearing loss syndrome est un(e) (attribut) Congenital cleft hand true Inferred relationship Some
Split hand, split foot malformation with sensorineural hearing loss syndrome est un(e) (attribut) Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Split hand, split foot malformation with sensorineural hearing loss syndrome est un(e) (attribut) Sensorineural hearing loss true Inferred relationship Some
Split hand, split foot malformation with sensorineural hearing loss syndrome est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Split hand, split foot malformation with sensorineural hearing loss syndrome est un(e) (attribut) Congenital hearing disorder false Inferred relationship Some
Split hand, split foot malformation with sensorineural hearing loss syndrome est un(e) (attribut) Split foot true Inferred relationship Some
Split hand, split foot malformation with sensorineural hearing loss syndrome est un(e) (attribut) Hearing loss associated with syndrome true Inferred relationship Some
Split hand, split foot malformation with sensorineural hearing loss syndrome est un(e) (attribut) Auditory system hereditary disorder true Inferred relationship Some
Split hand, split foot malformation with sensorineural hearing loss syndrome localisation d'une constatation (attribut) oreille false Inferred relationship Some 6
Split hand, split foot malformation with sensorineural hearing loss syndrome interprète (attribut) Hearing, function (observable entity) true Inferred relationship Some 7
Split hand, split foot malformation with sensorineural hearing loss syndrome interprète (attribut) entité observable fonctionnelle false Inferred relationship Some
Split hand, split foot malformation with sensorineural hearing loss syndrome survenue (attribut) congénital false Inferred relationship Some 6
Split hand, split foot malformation with sensorineural hearing loss syndrome survenue (attribut) congénital false Inferred relationship Some 7
Split hand, split foot malformation with sensorineural hearing loss syndrome survenue (attribut) congénital false Inferred relationship Some 8
Split hand, split foot malformation with sensorineural hearing loss syndrome localisation d'une constatation (attribut) pied (structure corporelle) false Inferred relationship Some 6
Split hand, split foot malformation with sensorineural hearing loss syndrome localisation d'une constatation (attribut) main false Inferred relationship Some 7
Split hand, split foot malformation with sensorineural hearing loss syndrome morphologie associée (attribut) Congenital absence false Inferred relationship Some 8
Split hand, split foot malformation with sensorineural hearing loss syndrome localisation d'une constatation (attribut) Entire digit false Inferred relationship Some 8
Split hand, split foot malformation with sensorineural hearing loss syndrome morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 6
Split hand, split foot malformation with sensorineural hearing loss syndrome morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 7

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

Back to Start