725461009: Microcephalic osteodysplastic primordial dwarfism types I and III (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of general physiological development\Disorder of stature\Short stature disorder\Primordial dwarfism\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism types I and III

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

\Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephalic osteodysplastic primordial dwarfism types I and III

\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Microcephalic osteodysplastic primordial dwarfism types I and III

\General finding of observation of patient\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 types I and III

\Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephalic osteodysplastic primordial dwarfism types I and III

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism types I and III
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Microcephalic osteodysplastic primordial dwarfism types I and III
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism types I and III
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism types I and III
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism types I and III
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism types I and III

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Microcephalic osteodysplastic primordial dwarfism types I and III
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microcephalic osteodysplastic primordial dwarfism types I and III
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Microcephalic osteodysplastic primordial dwarfism types I and III
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Microcephalic osteodysplastic primordial dwarfism types I and III
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Microcephalic osteodysplastic primordial dwarfism types I and III
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism types I and III
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism types I and III
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism types I and III
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism types I and III
\Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Microcephalic osteodysplastic primordial dwarfism types I and III
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism types I and III
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Microcephalic osteodysplastic primordial dwarfism types I and III
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism types I and III
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism types I and III
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism types I and III
\Disease\Developmental disorder\Developmental hereditary disorder\Microcephalic osteodysplastic primordial dwarfism types I and III
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism types I and III
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Microcephalic osteodysplastic primordial dwarfism types I and III
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism types I and III
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism types I and III
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Primordial dwarfism\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism types I and III

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3443211011 Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

3443212016 Microcephalic osteodysplastic primordial dwarfism types I and III en Synonym Active Initial character case insensitive SNOMED CT core

3443213014 Microcephalic osteodysplastic primordial dwarfism Taybi Linder type en Synonym Active Initial character case insensitive SNOMED CT core

3443214015 Primordial microcephalic dwarfism Crachami type en Synonym Active Initial character case insensitive SNOMED CT core

3443215019 Taybi Linder syndrome en Synonym Active Case sensitive SNOMED CT core

3443216018 Disease with characteristics of intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome. Although the causative gene remains unknown, homozygosity mapping has allowed identification of a candidate gene region on chromosome 2q (2q14.2-q14.3). Histological studies suggest that MOPD types 1 and 3 result from a basic defect in cell proliferation and tissue differentiation. Transmitted as autosomal recessive trait. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Microcephalic osteodysplastic primordial dwarfism types I and III	Occurrence	Congenital	true	Inferred relationship	Some	1
Microcephalic osteodysplastic primordial dwarfism types I and III	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Microcephalic osteodysplastic primordial dwarfism types I and III	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Microcephalic osteodysplastic primordial dwarfism types I and III	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Microcephalic osteodysplastic primordial dwarfism types I and III	Finding site	Bone structure	true	Inferred relationship	Some	1
Microcephalic osteodysplastic primordial dwarfism types I and III	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Microcephalic osteodysplastic primordial dwarfism types I and III	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Microcephalic osteodysplastic primordial dwarfism types I and III	Interprets	Height / growth measure	true	Inferred relationship	Some	3
Microcephalic osteodysplastic primordial dwarfism types I and III	Has interpretation	Below reference range	true	Inferred relationship	Some	4
Microcephalic osteodysplastic primordial dwarfism types I and III	Finding site	Structure of head	true	Inferred relationship	Some	2
Microcephalic osteodysplastic primordial dwarfism types I and III	Interprets	Birth head circumference	true	Inferred relationship	Some	4
Microcephalic osteodysplastic primordial dwarfism types I and III	Is a	Congenital microcephaly	true	Inferred relationship	Some
Microcephalic osteodysplastic primordial dwarfism types I and III	Has interpretation	Below reference range	true	Inferred relationship	Some	3
Microcephalic osteodysplastic primordial dwarfism types I and III	Is a	Microcephalus	false	Inferred relationship	Some
Microcephalic osteodysplastic primordial dwarfism types I and III	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Microcephalic osteodysplastic primordial dwarfism types I and III	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Microcephalic osteodysplastic primordial dwarfism types I and III	Is a	Osteodysplastic primordial dwarfism	true	Inferred relationship	Some
Microcephalic osteodysplastic primordial dwarfism types I and III	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Microcephalic osteodysplastic primordial dwarfism types I and III	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Microcephalic osteodysplastic primordial dwarfism types I and III	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Microcephalic osteodysplastic primordial dwarfism types I and III	Occurrence	Congenital	true	Inferred relationship	Some	2
Microcephalic osteodysplastic primordial dwarfism types I and III	Occurrence	Congenital	false	Inferred relationship	Some	3
Microcephalic osteodysplastic primordial dwarfism types I and III	Associated morphology	Congenital smallness	true	Inferred relationship	Some	2
Microcephalic osteodysplastic primordial dwarfism types I and III	Finding site	Brain structure	false	Inferred relationship	Some	2
Microcephalic osteodysplastic primordial dwarfism types I and III	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Microcephalic osteodysplastic primordial dwarfism types I and III	Finding site	Bone structure	false	Inferred relationship	Some	3

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

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3443211011	Microcephalic osteodysplastic primordial dwarfism types I and III (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3443212016	Microcephalic osteodysplastic primordial dwarfism types I and III	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3443213014	Microcephalic osteodysplastic primordial dwarfism Taybi Linder type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3443214015	Primordial microcephalic dwarfism Crachami type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3443215019	Taybi Linder syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3443216018	Disease with characteristics of intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome. Although the causative gene remains unknown, homozygosity mapping has allowed identification of a candidate gene region on chromosome 2q (2q14.2-q14.3). Histological studies suggest that MOPD types 1 and 3 result from a basic defect in cell proliferation and tissue differentiation. Transmitted as autosomal recessive trait.	en	Definition	Active	Case sensitive	SNOMED CT core