FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.13  |  FHIR Version n/a  User: [n/a]

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


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
5402609015 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by diaphragmatic hernia, lung hypoplasia, ossification defect of the skull, and severe limb hypoplasia. Other clinical features may include, syndactyly, clinodactyly, extra spleen, absence of the femur or pelvic bone, partial intestinal malrotation, omphalocele and testicular atrophy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402610013 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by diaphragmatic hernia, lung hypoplasia, ossification defect of the skull, and severe limb hypoplasia. Other clinical features may include, syndactyly, clinodactyly, extra spleen, absence of the femur or pelvic bone, partial intestinal malrotation, omphalocele and testicular atrophy. 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 Structure of abdominopelvic viscus 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 Developmental anomaly 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 Structure of abdominopelvic viscus 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 of diaphragm 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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start