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721095007: syndroom van diafragmadefect, hypoplasie van ledematen en schedeldefect (aandoening)


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

Descriptions:

Id Description Lang Type Status Case? Module
3323481014 Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323482019 Diaphragmatic defect, limb deficiency, skull defect syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323483012 Froster Huch syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
6113761000146117 syndroom van Froster-Huch nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6998071000146117 syndroom van diafragmadefect, hypoplasie van ledematen en schedeldefect (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6998081000146115 syndroom van diafragmadefect, hypoplasie van ledematen en schedeldefect nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3323485017 Syndrome with the association of classical diaphragmatic hernia (Bochdalek type), severe lung hypoplasia and variable associated malformations. It has been reported only once in four successive fetuses (two females and two males) born to a nonconsanguineous couple. The spectrum of malformations is wide and includes omphalocele (one case), severe limb hypoplasia (two cases), syndactyly of the toes (two cases), extra spleen (one case) and an ossification defect of the skull (one case). 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
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Is a Congenital hypoplasia of lung true Inferred relationship Some
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Is a Congenital hernia of foramen of Bochdalek false Inferred relationship Some
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Occurrence Congenital false Inferred relationship Some 7
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Associated morphology defect false Inferred relationship Some 8
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Finding site Diaphragm structure false Inferred relationship Some 8
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Associated morphology Herniated structure (morphologic abnormality) false Inferred relationship Some 9
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Finding site structuur van inwendig orgaan van buikholte en/of bekkenholte (lichaamsstructuur) false Inferred relationship Some 9
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Finding site Diaphragm structure false Inferred relationship Some 5
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Associated morphology Hernial opening (morphologic abnormality) false Inferred relationship Some 6
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Finding site Structure of foramen of Bochdalek false Inferred relationship Some 6
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Associated morphology Hypoplasia false Inferred relationship Some 7
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Finding site Lung structure false Inferred relationship Some 7
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 5
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Associated morphology Herniated structure (morphologic abnormality) true Inferred relationship Some 2
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 4
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Finding site structuur van inwendig orgaan van buikholte en/of bekkenholte (lichaamsstructuur) false Inferred relationship Some 2
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Is a defect van diafragma false Inferred relationship Some
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Associated morphology Hernial opening (morphologic abnormality) true Inferred relationship Some 1
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Finding site Structure of foramen of Bochdalek true Inferred relationship Some 1
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Finding site Diaphragm structure false Inferred relationship Some 4
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Associated morphology defect false Inferred relationship Some 4
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Some 3
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Finding site Lung structure true Inferred relationship Some 3
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Is a Congenital posterolateral diaphragmatic hernia (disorder) true Inferred relationship Some
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Finding site Structure of organ within abdominopelvic cavity (body structure) false Inferred relationship Some 2
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Finding site Abdomen false Inferred relationship Some 2
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Finding site Intra-abdominopelvic structure true Inferred relationship Some 2
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Is a Hereditary myopathy (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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