1237412001: Regressive spondylometaphyseal dysplasia (disorder)

SNOMED CT Concept\Clinical finding\...

\Musculoskeletal finding\Musculoskeletal disorder\...

\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Regressive spondylometaphyseal dysplasia

\Disorder of skeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Regressive spondylometaphyseal dysplasia

\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Regressive spondylometaphyseal dysplasia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Regressive spondylometaphyseal dysplasia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondylometaphyseal dysplasia\Regressive spondylometaphyseal dysplasia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Regressive spondylometaphyseal dysplasia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Regressive spondylometaphyseal dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Regressive spondylometaphyseal dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Regressive spondylometaphyseal dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Regressive spondylometaphyseal dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Regressive spondylometaphyseal dysplasia
\Disease\Developmental disorder\Developmental hereditary disorder\Spondylometaphyseal dysplasia\Regressive spondylometaphyseal dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Regressive spondylometaphyseal dysplasia

Status: current, Primitive. Date: 30-Sep 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5099038019 Regressive spondylometaphyseal dysplasia en Synonym Active Case insensitive SNOMED CT core

5099039010 Regressive spondylometaphyseal dysplasia (disorder) en Fully specified name Active Case insensitive SNOMED CT core

5099040012 A rare primary bone dysplasia characterised by mild short stature, rhizomelic shortening of the arms and legs, bowing of long bones with widened and irregular metaphyses, thoracolumbar kyphosis and metacarpal shortening. A marked improvement of the radiologic skeletal features is typical. Pelger-Huet anomaly (i.e. dumbbell shape bilobed nuclei of neutrophils) is a characteristic haematological feature of this disease. en Definition Active Case sensitive SNOMED CT core

5099041011 A rare primary bone dysplasia characterized by mild short stature, rhizomelic shortening of the arms and legs, bowing of long bones with widened and irregular metaphyses, thoracolumbar kyphosis and metacarpal shortening. A marked improvement of the radiologic skeletal features is typical. Pelger-Huet anomaly (i.e. dumbbell shape bilobed nuclei of neutrophils) is a characteristic hematological feature of this disease. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Regressive spondylometaphyseal dysplasia	Is a	Spondylometaphyseal dysplasia	true	Inferred relationship	Some
Regressive spondylometaphyseal dysplasia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Regressive spondylometaphyseal dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Regressive spondylometaphyseal dysplasia	Finding site	Skeletal system structure	true	Inferred relationship	Some	1
Regressive spondylometaphyseal dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Regressive spondylometaphyseal dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5099038019	Regressive spondylometaphyseal dysplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
5099039010	Regressive spondylometaphyseal dysplasia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5099040012	A rare primary bone dysplasia characterised by mild short stature, rhizomelic shortening of the arms and legs, bowing of long bones with widened and irregular metaphyses, thoracolumbar kyphosis and metacarpal shortening. A marked improvement of the radiologic skeletal features is typical. Pelger-Huet anomaly (i.e. dumbbell shape bilobed nuclei of neutrophils) is a characteristic haematological feature of this disease.	en	Definition	Active	Case sensitive	SNOMED CT core
5099041011	A rare primary bone dysplasia characterized by mild short stature, rhizomelic shortening of the arms and legs, bowing of long bones with widened and irregular metaphyses, thoracolumbar kyphosis and metacarpal shortening. A marked improvement of the radiologic skeletal features is typical. Pelger-Huet anomaly (i.e. dumbbell shape bilobed nuclei of neutrophils) is a characteristic hematological feature of this disease.	en	Definition	Active	Case sensitive	SNOMED CT core