773303005: Spondyloepimetaphyseal dysplasia Genevieve type (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Spondyloepimetaphyseal dysplasia Genevieve type

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia Genevieve type

\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\Spondyloepimetaphyseal dysplasia Genevieve type

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Spondyloepimetaphyseal dysplasia Genevieve type
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Spondyloepimetaphyseal dysplasia Genevieve type

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Spondyloepimetaphyseal dysplasia Genevieve type
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Spondyloepimetaphyseal dysplasia Genevieve type
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Spondyloepimetaphyseal dysplasia Genevieve type

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia Genevieve type

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia Genevieve type
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia Genevieve type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia Genevieve type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia Genevieve type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia Genevieve type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia Genevieve type

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Developmental disorder\Developmental hereditary disorder\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Developmental disorder\Developmental delay\Spondyloepimetaphyseal dysplasia Genevieve type
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia Genevieve type

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3723047017 Spondyloepimetaphyseal dysplasia Genevieve type (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

3723048010 Spondyloepimetaphyseal dysplasia Geneviève type en Synonym Active Initial character case insensitive SNOMED CT core

3723049019 Spondyloepimetaphyseal dysplasia Genevieve type en Synonym Active Initial character case insensitive SNOMED CT core

3723050019 SEMDG - spondyloepimetaphyseal dysplasia Genevieve type en Synonym Active Case sensitive SNOMED CT core

3723052010 A rare primary bone dysplasia with characteristics of severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips. Caused by homozygous or compound heterozygous mutation in the NANS gene on chromosome 9q22. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spondyloepimetaphyseal dysplasia Genevieve type	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia Genevieve type	Occurrence	Congenital	true	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia Genevieve type	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia Genevieve type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Spondyloepimetaphyseal dysplasia Genevieve type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Spondyloepimetaphyseal dysplasia Genevieve type	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia Genevieve type	Is a	Spondyloepimetaphyseal disorder	true	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia Genevieve type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia Genevieve type	Is a	Intellectual disability	true	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia Genevieve type	Is a	Developmental delay	true	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia Genevieve type	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia Genevieve type	Occurrence	Congenital	true	Inferred relationship	Some	2
Spondyloepimetaphyseal dysplasia Genevieve type	Finding site	Bone structure	true	Inferred relationship	Some	2
Spondyloepimetaphyseal dysplasia Genevieve type	Finding site	Face structure	true	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia Genevieve type	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Spondyloepimetaphyseal dysplasia Genevieve type	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia Genevieve type	Interprets	Height / growth measure	true	Inferred relationship	Some	3
Spondyloepimetaphyseal dysplasia Genevieve type	Interprets	Intellectual ability	true	Inferred relationship	Some	4
Spondyloepimetaphyseal dysplasia Genevieve type	Has interpretation	Impaired	true	Inferred relationship	Some	4
Spondyloepimetaphyseal dysplasia Genevieve type	Interprets	Adaptation behaviour	true	Inferred relationship	Some	5
Spondyloepimetaphyseal dysplasia Genevieve type	Has interpretation	Impaired	true	Inferred relationship	Some	5

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3723047017	Spondyloepimetaphyseal dysplasia Genevieve type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3723048010	Spondyloepimetaphyseal dysplasia Geneviève type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3723049019	Spondyloepimetaphyseal dysplasia Genevieve type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3723050019	SEMDG - spondyloepimetaphyseal dysplasia Genevieve type	en	Synonym	Active	Case sensitive	SNOMED CT core
3723052010	A rare primary bone dysplasia with characteristics of severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips. Caused by homozygous or compound heterozygous mutation in the NANS gene on chromosome 9q22.	en	Definition	Active	Case sensitive	SNOMED CT core