716090004: Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Congenital malformation of genital organs\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Short stature with craniofacial anomalies and genital hypoplasia syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\Short stature with craniofacial anomalies and genital hypoplasia syndrome

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

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Short stature with craniofacial anomalies and genital hypoplasia syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Short stature with craniofacial anomalies and genital hypoplasia syndrome

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Short stature with craniofacial anomalies and genital hypoplasia syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Short stature with craniofacial anomalies and genital hypoplasia syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\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\Congenital abnormality of skull and face bones\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Short stature with craniofacial anomalies and genital hypoplasia syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Short stature with craniofacial anomalies and genital hypoplasia syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2016. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3304688014 Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3304689018 Short stature with craniofacial anomalies and genital hypoplasia syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3304695017 Haspeslagh Fryns Muelenaere syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Short stature with craniofacial anomalies and genital hypoplasia syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Short stature with craniofacial anomalies and genital hypoplasia syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Short stature with craniofacial anomalies and genital hypoplasia syndrome	Is a	Congenital malformation of genital organs	true	Inferred relationship	Existential restriction modifier
Short stature with craniofacial anomalies and genital hypoplasia syndrome	Is a	Short stature disorder	true	Inferred relationship	Existential restriction modifier
Short stature with craniofacial anomalies and genital hypoplasia syndrome	Is a	Congenital abnormality of skull and face bones	true	Inferred relationship	Existential restriction modifier
Short stature with craniofacial anomalies and genital hypoplasia syndrome	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Short stature with craniofacial anomalies and genital hypoplasia syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Short stature with craniofacial anomalies and genital hypoplasia syndrome	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Short stature with craniofacial anomalies and genital hypoplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Short stature with craniofacial anomalies and genital hypoplasia syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	3
Short stature with craniofacial anomalies and genital hypoplasia syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Short stature with craniofacial anomalies and genital hypoplasia syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	5
Short stature with craniofacial anomalies and genital hypoplasia syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
Short stature with craniofacial anomalies and genital hypoplasia syndrome	Finding site	Bone structure of head	false	Inferred relationship	Existential restriction modifier	5
Short stature with craniofacial anomalies and genital hypoplasia syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	4
Short stature with craniofacial anomalies and genital hypoplasia syndrome	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	4
Short stature with craniofacial anomalies and genital hypoplasia syndrome	Associated morphology	Congenital hypoplasia	false	Inferred relationship	Existential restriction modifier	3
Short stature with craniofacial anomalies and genital hypoplasia syndrome	Finding site	Genital structure	false	Inferred relationship	Existential restriction modifier	3
Short stature with craniofacial anomalies and genital hypoplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Short stature with craniofacial anomalies and genital hypoplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Short stature with craniofacial anomalies and genital hypoplasia syndrome	Finding site	Bone structure of head	true	Inferred relationship	Existential restriction modifier	2
Short stature with craniofacial anomalies and genital hypoplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Short stature with craniofacial anomalies and genital hypoplasia syndrome	Finding site	Genital structure	true	Inferred relationship	Existential restriction modifier	1
Short stature with craniofacial anomalies and genital hypoplasia syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Short stature with craniofacial anomalies and genital hypoplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Short stature with craniofacial anomalies and genital hypoplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Short stature with craniofacial anomalies and genital hypoplasia syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3
Short stature with craniofacial anomalies and genital hypoplasia syndrome	Associated morphology	Hypoplasia	true	Inferred relationship	Existential restriction modifier	1
Short stature with craniofacial anomalies and genital hypoplasia syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Short stature with craniofacial anomalies and genital hypoplasia syndrome	Interprets	Height / growth measure	true	Inferred relationship	Existential restriction modifier	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3304688014	Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3304689018	Short stature with craniofacial anomalies and genital hypoplasia syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3304695017	Haspeslagh Fryns Muelenaere syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module