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721095007: Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder)


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3323482019 Diaphragmatic defect, limb deficiency, skull defect syndrome en Synonym Active Case insensitive SNOMED CT core
3323483012 Froster Huch syndrome en Synonym Active Case sensitive SNOMED CT core
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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Diaphragmatic defect, limb deficiency, skull defect syndrome Associated morphology Hernia true Inferred relationship Some 2
Diaphragmatic defect, limb deficiency, skull defect syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Diaphragmatic defect, limb deficiency, skull defect syndrome Pathological process Pathological developmental process true Inferred relationship Some 4
Diaphragmatic defect, limb deficiency, skull defect syndrome Occurrence Congenital true Inferred relationship Some 3
Diaphragmatic defect, limb deficiency, skull defect syndrome Finding site Structure of abdominopelvic viscus false Inferred relationship Some 2
Diaphragmatic defect, limb deficiency, skull defect syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Diaphragmatic defect, limb deficiency, skull defect syndrome Occurrence Congenital true Inferred relationship Some 4
Diaphragmatic defect, limb deficiency, skull defect syndrome Is a Defect of diaphragm true Inferred relationship Some
Diaphragmatic defect, limb deficiency, skull defect syndrome Occurrence Congenital true Inferred relationship Some 2
Diaphragmatic defect, limb deficiency, skull defect syndrome Occurrence Congenital true Inferred relationship Some 1
Diaphragmatic defect, limb deficiency, skull defect syndrome Associated morphology Hernial opening true Inferred relationship Some 1
Diaphragmatic defect, limb deficiency, skull defect syndrome Finding site Structure of foramen of Bochdalek true Inferred relationship Some 1
Diaphragmatic defect, limb deficiency, skull defect syndrome Finding site Diaphragm structure true Inferred relationship Some 4
Diaphragmatic defect, limb deficiency, skull defect syndrome Associated morphology Defect true Inferred relationship Some 4
Diaphragmatic defect, limb deficiency, skull defect syndrome Associated morphology Hypoplasia true Inferred relationship Some 3
Diaphragmatic defect, limb deficiency, skull defect syndrome Finding site Lung structure true Inferred relationship Some 3
Diaphragmatic defect, limb deficiency, skull defect syndrome Is a Congenital posterolateral diaphragmatic hernia true Inferred relationship Some
Diaphragmatic defect, limb deficiency, skull defect syndrome Finding site Structure of organ within abdominopelvic cavity false Inferred relationship Some 2
Diaphragmatic defect, limb deficiency, skull defect syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Diaphragmatic defect, limb deficiency, skull defect syndrome Finding site Structure of abdomen false Inferred relationship Some 2
Diaphragmatic defect, limb deficiency, skull defect syndrome Finding site Intra-abdominopelvic structure true Inferred relationship Some 2
Diaphragmatic defect, limb deficiency, skull defect syndrome Is a Congenital pulmonary hypoplasia true Inferred relationship Some
Diaphragmatic defect, limb deficiency, skull defect syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Diaphragmatic defect, limb deficiency, skull defect syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Diaphragmatic defect, limb deficiency, skull defect syndrome Is a Congenital hernia of foramen of Bochdalek false Inferred relationship Some
Diaphragmatic defect, limb deficiency, skull defect syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Diaphragmatic defect, limb deficiency, skull defect syndrome Occurrence Congenital false Inferred relationship Some 5
Diaphragmatic defect, limb deficiency, skull defect syndrome Occurrence Congenital false Inferred relationship Some 6
Diaphragmatic defect, limb deficiency, skull defect syndrome Occurrence Congenital false Inferred relationship Some 7
Diaphragmatic defect, limb deficiency, skull defect syndrome Associated morphology Defect false Inferred relationship Some 8
Diaphragmatic defect, limb deficiency, skull defect syndrome Finding site Diaphragm structure false Inferred relationship Some 8
Diaphragmatic defect, limb deficiency, skull defect syndrome Associated morphology Hernia false Inferred relationship Some 9
Diaphragmatic defect, limb deficiency, skull defect syndrome Finding site Structure of abdominopelvic viscus false Inferred relationship Some 9
Diaphragmatic defect, limb deficiency, skull defect syndrome Finding site Diaphragm structure false Inferred relationship Some 5
Diaphragmatic defect, limb deficiency, skull defect syndrome Associated morphology Hernial opening false Inferred relationship Some 6
Diaphragmatic defect, limb deficiency, skull defect syndrome Finding site Structure of foramen of Bochdalek false Inferred relationship Some 6
Diaphragmatic defect, limb deficiency, skull defect syndrome Associated morphology Hypoplasia false Inferred relationship Some 7
Diaphragmatic defect, limb deficiency, skull defect syndrome Finding site Lung structure false Inferred relationship Some 7
Diaphragmatic defect, limb deficiency, skull defect syndrome Associated morphology Developmental abnormality false Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Respiratory finding reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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