720635002: Cerebro-facio-thoracic dysplasia (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of back\Finding of spinal region\Disorder of spinal region\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Cerebro-facio-thoracic dysplasia
\Finding of back\Finding of spinal region\Disorder of spinal region\Disorder of vertebral column\Cerebro-facio-thoracic dysplasia
\Finding of back\Finding of spinal region\Vertebral column finding\Disorder of vertebral column\Cerebro-facio-thoracic dysplasia
\Finding of back\Finding of spinal region\Vertebral column finding\Finding of vertebra\Cerebro-facio-thoracic dysplasia
\Finding of back\Disorder of back\Disorder of spinal region\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Cerebro-facio-thoracic dysplasia
\Finding of back\Disorder of back\Disorder of spinal region\Disorder of vertebral column\Cerebro-facio-thoracic dysplasia
\Finding of back\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Cerebro-facio-thoracic dysplasia

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Cerebro-facio-thoracic dysplasia

\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Cerebro-facio-thoracic dysplasia
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Cerebro-facio-thoracic dysplasia
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Cerebro-facio-thoracic dysplasia
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Cerebro-facio-thoracic dysplasia
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Cerebro-facio-thoracic dysplasia
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Cerebro-facio-thoracic dysplasia
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Cerebro-facio-thoracic dysplasia

\Finding of head and neck region\Head finding\...

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cerebro-facio-thoracic dysplasia

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cerebro-facio-thoracic dysplasia
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cerebro-facio-thoracic dysplasia

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Cerebro-facio-thoracic dysplasia
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Cerebro-facio-thoracic dysplasia
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Cerebro-facio-thoracic dysplasia

\Musculoskeletal finding\Vertebral column finding\Disorder of vertebral column\Cerebro-facio-thoracic dysplasia
\Musculoskeletal finding\Vertebral column finding\Finding of vertebra\Cerebro-facio-thoracic dysplasia
\Musculoskeletal finding\Bone finding\Finding of vertebra\Cerebro-facio-thoracic dysplasia
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Cerebro-facio-thoracic dysplasia
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Cerebro-facio-thoracic dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Cerebro-facio-thoracic dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of vertebral column\Cerebro-facio-thoracic dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Cerebro-facio-thoracic dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Cerebro-facio-thoracic dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Cerebro-facio-thoracic dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Cerebro-facio-thoracic dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Cerebro-facio-thoracic dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Cerebro-facio-thoracic dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Cerebro-facio-thoracic dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Cerebro-facio-thoracic dysplasia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Cerebro-facio-thoracic dysplasia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cerebro-facio-thoracic dysplasia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cerebro-facio-thoracic dysplasia
\Disease\Disorder of body wall\Congenital anomaly of body wall\Congenital anomaly of rib\Cerebro-facio-thoracic dysplasia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Cerebro-facio-thoracic dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Cerebro-facio-thoracic dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of vertebral column\Cerebro-facio-thoracic dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Cerebro-facio-thoracic dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Cerebro-facio-thoracic dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Cerebro-facio-thoracic dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Cerebro-facio-thoracic dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Cerebro-facio-thoracic dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Cerebro-facio-thoracic dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Cerebro-facio-thoracic dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Cerebro-facio-thoracic dysplasia
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Cerebro-facio-thoracic dysplasia
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Cerebro-facio-thoracic dysplasia
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Cerebro-facio-thoracic dysplasia
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Cerebro-facio-thoracic dysplasia
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cerebro-facio-thoracic dysplasia
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cerebro-facio-thoracic dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Cerebro-facio-thoracic dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of body wall\Congenital anomaly of rib\Cerebro-facio-thoracic dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Cerebro-facio-thoracic dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cerebro-facio-thoracic dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Cerebro-facio-thoracic dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Cerebro-facio-thoracic dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Cerebro-facio-thoracic dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Cerebro-facio-thoracic dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Cerebro-facio-thoracic dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Cerebro-facio-thoracic dysplasia
\Disease\Disorder of back\Disorder of spinal region\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Cerebro-facio-thoracic dysplasia
\Disease\Disorder of back\Disorder of spinal region\Disorder of vertebral column\Cerebro-facio-thoracic dysplasia
\Disease\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Cerebro-facio-thoracic dysplasia
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Cerebro-facio-thoracic dysplasia
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Cerebro-facio-thoracic dysplasia
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Cerebro-facio-thoracic dysplasia
\Disease\Developmental disorder\Developmental hereditary disorder\Cerebro-facio-thoracic dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Cerebro-facio-thoracic dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of body wall\Congenital anomaly of rib\Cerebro-facio-thoracic dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Cerebro-facio-thoracic dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cerebro-facio-thoracic dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Cerebro-facio-thoracic dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Cerebro-facio-thoracic dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Cerebro-facio-thoracic dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Cerebro-facio-thoracic dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Cerebro-facio-thoracic dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Cerebro-facio-thoracic dysplasia

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

Descriptions:

Id Description Lang Type Status Case? Module

3321611018 Cerebro-facio-thoracic dysplasia (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3321612013 Cerebro-facio-thoracic dysplasia en Synonym Active Case insensitive SNOMED CT core

3321613015 Pascual Castroviejo syndrome type 1 en Synonym Active Case sensitive SNOMED CT core

3321614014 A rare syndrome with characteristics of facial dysmorphism, intellectual deficit and costovertebral abnormalities. To date, 13 cases have been reported in the literature. Dysmorphic features include brachycephaly, hypertelorism, broad nasal bridge, large philtrum, triangular-shaped mouth and micrognathia. There is often synophrys and a low hairline on the back. Costovertebral abnormalities are always present: short, bifid or fused ribs, bony bridges joining the posterior arches in some ribs, hemi vertebrae. Intellectual deficit is constant but the severity varies and patients also have cerebral abnormalities: cortical atrophy, hypoplasia of the corpus callosum and cerebellar vermis. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cerebro-facio-thoracic dysplasia	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Cerebro-facio-thoracic dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Cerebro-facio-thoracic dysplasia	Finding site	Bone structure of vertebra	true	Inferred relationship	Some	2
Cerebro-facio-thoracic dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Cerebro-facio-thoracic dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	2
Cerebro-facio-thoracic dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Cerebro-facio-thoracic dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Cerebro-facio-thoracic dysplasia	Finding site	Face structure	true	Inferred relationship	Some	1
Cerebro-facio-thoracic dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Cerebro-facio-thoracic dysplasia	Is a	Disorder of vertebral column	true	Inferred relationship	Some
Cerebro-facio-thoracic dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Cerebro-facio-thoracic dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Some	3
Cerebro-facio-thoracic dysplasia	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Cerebro-facio-thoracic dysplasia	Is a	Finding of vertebra	true	Inferred relationship	Some
Cerebro-facio-thoracic dysplasia	Interprets	Intellectual ability	true	Inferred relationship	Some	4
Cerebro-facio-thoracic dysplasia	Has interpretation	Impaired	true	Inferred relationship	Some	4
Cerebro-facio-thoracic dysplasia	Interprets	Adaptation behaviour	true	Inferred relationship	Some	5
Cerebro-facio-thoracic dysplasia	Has interpretation	Impaired	true	Inferred relationship	Some	5
Cerebro-facio-thoracic dysplasia	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Cerebro-facio-thoracic dysplasia	Is a	Congenital anomaly of spine	true	Inferred relationship	Some
Cerebro-facio-thoracic dysplasia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Cerebro-facio-thoracic dysplasia	Is a	Intellectual disability	false	Inferred relationship	Some
Cerebro-facio-thoracic dysplasia	Is a	Dysostosis	true	Inferred relationship	Some
Cerebro-facio-thoracic dysplasia	Is a	Congenital anomaly of rib	true	Inferred relationship	Some
Cerebro-facio-thoracic dysplasia	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Cerebro-facio-thoracic dysplasia	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Cerebro-facio-thoracic dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Cerebro-facio-thoracic dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	3
Cerebro-facio-thoracic dysplasia	Finding site	Bone structure of rib	true	Inferred relationship	Some	3
Cerebro-facio-thoracic dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	4
Cerebro-facio-thoracic dysplasia	Occurrence	Congenital	false	Inferred relationship	Some	4
Cerebro-facio-thoracic dysplasia	Occurrence	Congenital	false	Inferred relationship	Some	5
Cerebro-facio-thoracic dysplasia	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Cerebro-facio-thoracic dysplasia	Finding site	Face structure	false	Inferred relationship	Some	3
Cerebro-facio-thoracic dysplasia	Finding site	Bone structure of rib	false	Inferred relationship	Some	4
Cerebro-facio-thoracic dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	5
Cerebro-facio-thoracic dysplasia	Finding site	Bone structure of vertebra	false	Inferred relationship	Some	5
Cerebro-facio-thoracic dysplasia	Is a	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3321611018	Cerebro-facio-thoracic dysplasia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3321612013	Cerebro-facio-thoracic dysplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
3321613015	Pascual Castroviejo syndrome type 1	en	Synonym	Active	Case sensitive	SNOMED CT core
3321614014	A rare syndrome with characteristics of facial dysmorphism, intellectual deficit and costovertebral abnormalities. To date, 13 cases have been reported in the literature. Dysmorphic features include brachycephaly, hypertelorism, broad nasal bridge, large philtrum, triangular-shaped mouth and micrognathia. There is often synophrys and a low hairline on the back. Costovertebral abnormalities are always present: short, bifid or fused ribs, bony bridges joining the posterior arches in some ribs, hemi vertebrae. Intellectual deficit is constant but the severity varies and patients also have cerebral abnormalities: cortical atrophy, hypoplasia of the corpus callosum and cerebellar vermis.	en	Definition	Active	Case sensitive	SNOMED CT core