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

Status: current, Primitive. 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 Case insensitive SNOMED CT core
3330719012 Ossification anomaly with psychomotor developmental delay syndrome en Synonym Active Case insensitive 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 Case sensitive 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 Case sensitive SNOMED CT core

0 descendants.

Expanded Value Set

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

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