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

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

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

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

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

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

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

\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 (disorder)

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

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

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

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 (core metadata concept) SNOMED CT core

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

3304695017 Haspeslagh Fryns Muelenaere syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3304696016 This syndrome has manifestation of short stature, craniofacial anomalies and genital hypoplasia. Intellectual deficit is also found in the majority of cases, sometimes together with pterygia. Less than 20 cases have been described so far. The mode of transmission is likely to be autosomal dominant with incomplete penetrance. The syndrome is caused by unbalanced reciprocal translocations of the distal parts of chromosomes 6q and 9p, leading to partial trisomy of the distal region of chromosome 6q and partial monosomy of the distal region of chromosome 9p. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3862471000052111 Haspeslagh-Fryns-Muelenaeres syndrom sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

Back to Start

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 (core metadata concept)	SNOMED CT core
3304689018	Short stature with craniofacial anomalies and genital hypoplasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3304695017	Haspeslagh Fryns Muelenaere syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3304696016	This syndrome has manifestation of short stature, craniofacial anomalies and genital hypoplasia. Intellectual deficit is also found in the majority of cases, sometimes together with pterygia. Less than 20 cases have been described so far. The mode of transmission is likely to be autosomal dominant with incomplete penetrance. The syndrome is caused by unbalanced reciprocal translocations of the distal parts of chromosomes 6q and 9p, leading to partial trisomy of the distal region of chromosome 6q and partial monosomy of the distal region of chromosome 9p.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3862471000052111	Haspeslagh-Fryns-Muelenaeres syndrom	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)