1208348002: Microcephalic osteodysplastic primordial dwarfism type II (disorder)

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

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Primordial dwarfism\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II
\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephalic osteodysplastic primordial dwarfism type II

\Finding of general physiological development\Disorder of stature\Short stature disorder\Primordial dwarfism\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II

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

\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephalic osteodysplastic primordial dwarfism type II

\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalic osteodysplastic primordial dwarfism type II

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Microcephalic osteodysplastic primordial dwarfism type II
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Microcephalic osteodysplastic primordial dwarfism type II
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microcephalic osteodysplastic primordial dwarfism type II
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Microcephalic osteodysplastic primordial dwarfism type II
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Microcephalic osteodysplastic primordial dwarfism type II
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Microcephalic osteodysplastic primordial dwarfism type II
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II
\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\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalic osteodysplastic primordial dwarfism type II
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalic osteodysplastic primordial dwarfism type II
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II
\Disease\Developmental disorder\Developmental hereditary disorder\Microcephalic osteodysplastic primordial dwarfism type II
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalic osteodysplastic primordial dwarfism type II
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Primordial dwarfism\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4963762016 Majewski osteodysplastic primordial dwarfism type II en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4963763014 Microcephalic osteodysplastic primordial dwarfism type II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4963764015 Microcephalic osteodysplastic primordial dwarfism type II (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5244195015 MOPD (microcephalic osteodysplastic primordial dwarfism) type II en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4963765019 A rare bone disease and a form of microcephalic primordial dwarfism with characteristics of severe pre and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance and increased risk for cerebrovascular disease. Caused by mutations in PCNT (21q22.3), encoding pericentrin, which anchors a wide range of centrosomal proteins and protein complexes during cell division. Disruption of pericentrin is thought to cause mitotic spindle defects, and impaired cell proliferation. Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5613921000052110 mikrocefal osteodysplastisk primordial kortvuxenhet, typ 2 sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Microcephalic osteodysplastic primordial dwarfism type II	Is a	Congenital microcephaly (disorder)	true	Inferred relationship	Some
Microcephalic osteodysplastic primordial dwarfism type II	Is a	Osteodysplastic primordial dwarfism	true	Inferred relationship	Some
Microcephalic osteodysplastic primordial dwarfism type II	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Microcephalic osteodysplastic primordial dwarfism type II	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Microcephalic osteodysplastic primordial dwarfism type II	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Microcephalic osteodysplastic primordial dwarfism type II	Interprets	Birth head circumference	true	Inferred relationship	Some	3
Microcephalic osteodysplastic primordial dwarfism type II	Has interpretation	Below reference range	true	Inferred relationship	Some	3
Microcephalic osteodysplastic primordial dwarfism type II	Interprets	Height / growth measure	true	Inferred relationship	Some	4
Microcephalic osteodysplastic primordial dwarfism type II	Has interpretation	Below reference range	true	Inferred relationship	Some	4
Microcephalic osteodysplastic primordial dwarfism type II	Occurrence	Congenital	true	Inferred relationship	Some	1
Microcephalic osteodysplastic primordial dwarfism type II	Finding site	Bone structure	true	Inferred relationship	Some	1
Microcephalic osteodysplastic primordial dwarfism type II	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Microcephalic osteodysplastic primordial dwarfism type II	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Microcephalic osteodysplastic primordial dwarfism type II	Occurrence	Congenital	true	Inferred relationship	Some	2
Microcephalic osteodysplastic primordial dwarfism type II	Finding site	Head structure	true	Inferred relationship	Some	2
Microcephalic osteodysplastic primordial dwarfism type II	Associated morphology	Congenital smallness	true	Inferred relationship	Some	2
Microcephalic osteodysplastic primordial dwarfism type II	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2

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
4963762016	Majewski osteodysplastic primordial dwarfism type II	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4963763014	Microcephalic osteodysplastic primordial dwarfism type II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4963764015	Microcephalic osteodysplastic primordial dwarfism type II (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5244195015	MOPD (microcephalic osteodysplastic primordial dwarfism) type II	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4963765019	A rare bone disease and a form of microcephalic primordial dwarfism with characteristics of severe pre and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance and increased risk for cerebrovascular disease. Caused by mutations in PCNT (21q22.3), encoding pericentrin, which anchors a wide range of centrosomal proteins and protein complexes during cell division. Disruption of pericentrin is thought to cause mitotic spindle defects, and impaired cell proliferation. Transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5613921000052110	mikrocefal osteodysplastisk primordial kortvuxenhet, typ 2	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)