722107005: Ossification anomaly with psychomotor developmental delay syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Ossification anomaly with psychomotor developmental delay syndrome (disorder)

\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Ossification anomaly with psychomotor developmental delay syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Ossification anomaly with psychomotor developmental delay syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Congenital anomaly of thorax\Ossification anomaly with psychomotor developmental delay syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Ossification anomaly with psychomotor developmental delay syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Ossification anomaly with psychomotor developmental delay syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Ossification anomaly with psychomotor developmental delay syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Ossification anomaly with psychomotor developmental delay syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Ossification anomaly with psychomotor developmental delay syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Ossification anomaly with psychomotor developmental delay syndrome (disorder)

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with defective mineralization\Ossification anomaly with psychomotor developmental delay syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with defective mineralization\Ossification anomaly with psychomotor developmental delay syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with defective mineralization\Ossification anomaly with psychomotor developmental delay syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with defective mineralization\Ossification anomaly with psychomotor developmental delay syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with defective mineralization\Ossification anomaly with psychomotor developmental delay syndrome (disorder)

\Disease\Degenerative disorder\Ossification anomaly with psychomotor developmental delay syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with defective mineralization\Ossification anomaly with psychomotor developmental delay syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with defective mineralization\Ossification anomaly with psychomotor developmental delay syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with defective mineralization\Ossification anomaly with psychomotor developmental delay syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with defective mineralization\Ossification anomaly with psychomotor developmental delay syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Ossification anomaly with psychomotor developmental delay syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Ossification anomaly with psychomotor developmental delay syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Ossification anomaly with psychomotor developmental delay syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Ossification anomaly with psychomotor developmental delay syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with defective mineralization\Ossification anomaly with psychomotor developmental delay syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with defective mineralization\Ossification anomaly with psychomotor developmental delay syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Ossification anomaly with psychomotor developmental delay syndrome (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with defective mineralization\Ossification anomaly with psychomotor developmental delay syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Ossification anomaly with psychomotor developmental delay syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with defective mineralization\Ossification anomaly with psychomotor developmental delay syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with defective mineralization\Ossification anomaly with psychomotor developmental delay 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

3330718016 Ossification anomaly with psychomotor developmental delay syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3330719012 Ossification anomaly with psychomotor developmental delay syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3330720018 This syndrome has characteristics of hypomineralisation of the cranial bones, thoracic dystrophy, hypotonia and abnormal and slender long bones due to an alteration in remodelling during ossification. It has been described in two brothers and was present at birth. The surviving boy displayed progressive osteopenia, slow healing of the periostal anomalies, hepatic angiomas, a thoracic deformity, delayed tooth eruption, progressive microcephaly with dilation of the cerebral ventricles and mental and motor delay. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3330724010 This syndrome has characteristics of hypomineralization of the cranial bones, thoracic dystrophy, hypotonia and abnormal and slender long bones due to an alteration in remodelling during ossification. It has been described in two brothers and was present at birth. The surviving boy displayed progressive osteopenia, slow healing of the periostal anomalies, hepatic angiomas, a thoracic deformity, delayed tooth eruption, progressive microcephaly with dilation of the cerebral ventricles and mental and motor delay. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

882971000172116 syndrome d'anomalies de l'ossification-retard psychomoteur fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

947671000172112 ossificatie-anomalieën, psychomotorische ontwikkelingsachterstand-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ossification anomaly with psychomotor developmental delay syndrome (disorder)	Is a	retard mental	false	Inferred relationship	Some
Ossification anomaly with psychomotor developmental delay syndrome (disorder)	Is a	Disorder of thorax (disorder)	false	Inferred relationship	Some
Ossification anomaly with psychomotor developmental delay syndrome (disorder)	Is a	Dysplasia with defective mineralization	true	Inferred relationship	Some
Ossification anomaly with psychomotor developmental delay syndrome (disorder)	Is a	Degenerative disorder	true	Inferred relationship	Some
Ossification anomaly with psychomotor developmental delay syndrome (disorder)	Associated morphology	Dystrophy	false	Inferred relationship	Some	3
Ossification anomaly with psychomotor developmental delay syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Ossification anomaly with psychomotor developmental delay syndrome (disorder)	Finding site	Thoracic structure	false	Inferred relationship	Some	3
Ossification anomaly with psychomotor developmental delay syndrome (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	4
Ossification anomaly with psychomotor developmental delay syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Ossification anomaly with psychomotor developmental delay syndrome (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	4
Ossification anomaly with psychomotor developmental delay syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Ossification anomaly with psychomotor developmental delay syndrome (disorder)	Is a	Congenital anomaly of thorax	true	Inferred relationship	Some
Ossification anomaly with psychomotor developmental delay syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Ossification anomaly with psychomotor developmental delay syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Ossification anomaly with psychomotor developmental delay syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Ossification anomaly with psychomotor developmental delay syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Ossification anomaly with psychomotor developmental delay syndrome (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Ossification anomaly with psychomotor developmental delay syndrome (disorder)	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Ossification anomaly with psychomotor developmental delay syndrome (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	2
Ossification anomaly with psychomotor developmental delay syndrome (disorder)	Finding site	Thoracic structure	true	Inferred relationship	Some	1
Ossification anomaly with psychomotor developmental delay syndrome (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Ossification anomaly with psychomotor developmental delay syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Ossification anomaly with psychomotor developmental delay syndrome (disorder)	Associated morphology	Impaired mineralization	true	Inferred relationship	Some	3
Ossification anomaly with psychomotor developmental delay syndrome (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	3
Ossification anomaly with psychomotor developmental delay syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	4
Ossification anomaly with psychomotor developmental delay syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4
Ossification anomaly with psychomotor developmental delay syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	5
Ossification anomaly with psychomotor developmental delay syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3330718016	Ossification anomaly with psychomotor developmental delay syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330719012	Ossification anomaly with psychomotor developmental delay syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330720018	This syndrome has characteristics of hypomineralisation of the cranial bones, thoracic dystrophy, hypotonia and abnormal and slender long bones due to an alteration in remodelling during ossification. It has been described in two brothers and was present at birth. The surviving boy displayed progressive osteopenia, slow healing of the periostal anomalies, hepatic angiomas, a thoracic deformity, delayed tooth eruption, progressive microcephaly with dilation of the cerebral ventricles and mental and motor delay.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3330724010	This syndrome has characteristics of hypomineralization of the cranial bones, thoracic dystrophy, hypotonia and abnormal and slender long bones due to an alteration in remodelling during ossification. It has been described in two brothers and was present at birth. The surviving boy displayed progressive osteopenia, slow healing of the periostal anomalies, hepatic angiomas, a thoracic deformity, delayed tooth eruption, progressive microcephaly with dilation of the cerebral ventricles and mental and motor delay.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
882971000172116	syndrome d'anomalies de l'ossification-retard psychomoteur	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
947671000172112	ossificatie-anomalieën, psychomotorische ontwikkelingsachterstand-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)