723404002: Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder)

SNOMED CT Concept\Clinical finding\...

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

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

\Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephalic osteodysplastic dysplasia Saul Wilson type

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephalic osteodysplastic dysplasia Saul Wilson type

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephalic osteodysplastic dysplasia Saul Wilson type
\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Microcephalic osteodysplastic dysplasia Saul Wilson type
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephalic osteodysplastic dysplasia Saul Wilson type

\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 dysplasia Saul Wilson type

\Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephalic osteodysplastic dysplasia Saul Wilson type

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic dysplasia Saul Wilson type
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Microcephalic osteodysplastic dysplasia Saul Wilson type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Osteoplastic dysplasia\Microcephalic osteodysplastic dysplasia Saul Wilson type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic dysplasia Saul Wilson type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic dysplasia Saul Wilson type
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteoplastic dysplasia\Microcephalic osteodysplastic dysplasia Saul Wilson type
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic dysplasia Saul Wilson type
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic dysplasia Saul Wilson type

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Microcephalic osteodysplastic dysplasia Saul Wilson type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microcephalic osteodysplastic dysplasia Saul Wilson type
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Microcephalic osteodysplastic dysplasia Saul Wilson type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Microcephalic osteodysplastic dysplasia Saul Wilson type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Microcephalic osteodysplastic dysplasia Saul Wilson type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Osteoplastic dysplasia\Microcephalic osteodysplastic dysplasia Saul Wilson type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic dysplasia Saul Wilson type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic dysplasia Saul Wilson type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteoplastic dysplasia\Microcephalic osteodysplastic dysplasia Saul Wilson type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic dysplasia Saul Wilson type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic dysplasia Saul Wilson type
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephalic osteodysplastic dysplasia Saul Wilson type
\Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Microcephalic osteodysplastic dysplasia Saul Wilson type
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephalic osteodysplastic dysplasia Saul Wilson type
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic dysplasia Saul Wilson type
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Microcephalic osteodysplastic dysplasia Saul Wilson type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly\Microcephalic osteodysplastic dysplasia Saul Wilson type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephalic osteodysplastic dysplasia Saul Wilson type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteoplastic dysplasia\Microcephalic osteodysplastic dysplasia Saul Wilson type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic dysplasia Saul Wilson type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic dysplasia Saul Wilson type
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic dysplasia Saul Wilson type
\Disease\Developmental disorder\Developmental hereditary disorder\Microcephalic osteodysplastic dysplasia Saul Wilson type
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic dysplasia Saul Wilson type
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Microcephalic osteodysplastic dysplasia Saul Wilson type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly\Microcephalic osteodysplastic dysplasia Saul Wilson type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephalic osteodysplastic dysplasia Saul Wilson type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteoplastic dysplasia\Microcephalic osteodysplastic dysplasia Saul Wilson type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic dysplasia Saul Wilson type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic dysplasia Saul Wilson type
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Primordial dwarfism\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic dysplasia Saul Wilson type

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3424446015 Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

3424447012 Microcephalic osteodysplastic dysplasia Saul Wilson type en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Microcephalic osteodysplastic dysplasia Saul Wilson type	Is a	Microcephalus	false	Inferred relationship	Existential restriction modifier
Microcephalic osteodysplastic dysplasia Saul Wilson type	Is a	Congenital anomaly of brain	false	Inferred relationship	Existential restriction modifier
Microcephalic osteodysplastic dysplasia Saul Wilson type	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Microcephalic osteodysplastic dysplasia Saul Wilson type	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Microcephalic osteodysplastic dysplasia Saul Wilson type	Is a	Osteodysplastic primordial dwarfism	true	Inferred relationship	Existential restriction modifier
Microcephalic osteodysplastic dysplasia Saul Wilson type	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Microcephalic osteodysplastic dysplasia Saul Wilson type	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Microcephalic osteodysplastic dysplasia Saul Wilson type	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Existential restriction modifier
Microcephalic osteodysplastic dysplasia Saul Wilson type	Is a	Osteoplastic dysplasia	true	Inferred relationship	Existential restriction modifier
Microcephalic osteodysplastic dysplasia Saul Wilson type	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Microcephalic osteodysplastic dysplasia Saul Wilson type	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Microcephalic osteodysplastic dysplasia Saul Wilson type	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
Microcephalic osteodysplastic dysplasia Saul Wilson type	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
Microcephalic osteodysplastic dysplasia Saul Wilson type	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	3
Microcephalic osteodysplastic dysplasia Saul Wilson type	Associated morphology	Congenital smallness	false	Inferred relationship	Existential restriction modifier	4
Microcephalic osteodysplastic dysplasia Saul Wilson type	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier	4
Microcephalic osteodysplastic dysplasia Saul Wilson type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	5
Microcephalic osteodysplastic dysplasia Saul Wilson type	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	5
Microcephalic osteodysplastic dysplasia Saul Wilson type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Microcephalic osteodysplastic dysplasia Saul Wilson type	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Microcephalic osteodysplastic dysplasia Saul Wilson type	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Microcephalic osteodysplastic dysplasia Saul Wilson type	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Microcephalic osteodysplastic dysplasia Saul Wilson type	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Microcephalic osteodysplastic dysplasia Saul Wilson type	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Microcephalic osteodysplastic dysplasia Saul Wilson type	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Microcephalic osteodysplastic dysplasia Saul Wilson type	Associated morphology	Congenital smallness	true	Inferred relationship	Existential restriction modifier	2
Microcephalic osteodysplastic dysplasia Saul Wilson type	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier	2
Microcephalic osteodysplastic dysplasia Saul Wilson type	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3
Microcephalic osteodysplastic dysplasia Saul Wilson type	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Microcephalic osteodysplastic dysplasia Saul Wilson type	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Microcephalic osteodysplastic dysplasia Saul Wilson type	Interprets	Height / growth measure	true	Inferred relationship	Existential restriction modifier	4
Microcephalic osteodysplastic dysplasia Saul Wilson type	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	5
Microcephalic osteodysplastic dysplasia Saul Wilson type	Finding site	Head structure	true	Inferred relationship	Existential restriction modifier	2
Microcephalic osteodysplastic dysplasia Saul Wilson type	Interprets	Birth head circumference	true	Inferred relationship	Existential restriction modifier	5
Microcephalic osteodysplastic dysplasia Saul Wilson type	Is a	Congenital microcephaly	true	Inferred relationship	Existential restriction modifier
Microcephalic osteodysplastic dysplasia Saul Wilson type	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	4

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
3424446015	Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
3424447012	Microcephalic osteodysplastic dysplasia Saul Wilson type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module