716089008: Craniofacial digital and genital anomalies syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of limb\Arachnodactyly\Craniofacial digital and genital anomalies syndrome
\Deformity\Congenital deformity\Arachnodactyly\Craniofacial digital and genital anomalies syndrome

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Craniofacial digital and genital anomalies syndrome

\Finding of limb structure\Deformity of limb\Arachnodactyly\Craniofacial digital and genital anomalies syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Arachnodactyly\Craniofacial digital and genital anomalies syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Arachnodactyly\Craniofacial digital and genital anomalies syndrome

\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\Craniofacial digital and genital anomalies 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\Craniofacial digital and genital anomalies 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\Craniofacial digital and genital anomalies syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Congenital malformation of genital organs\Craniofacial digital and genital anomalies 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\Craniofacial digital and genital anomalies 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\Craniofacial digital and genital anomalies 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\Craniofacial digital and genital anomalies 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\Craniofacial digital and genital anomalies 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\Craniofacial digital and genital anomalies 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\Craniofacial digital and genital anomalies 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\Craniofacial digital and genital anomalies syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Craniofacial digital and genital anomalies syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Craniofacial digital and genital anomalies syndrome
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Craniofacial digital and genital anomalies syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Craniofacial digital and genital anomalies syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Craniofacial digital and genital anomalies syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Craniofacial digital and genital anomalies syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial digital and genital anomalies 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\Craniofacial digital and genital anomalies syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial digital and genital anomalies syndrome

\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Craniofacial digital and genital anomalies syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Craniofacial digital and genital anomalies 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\Craniofacial digital and genital anomalies 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\Craniofacial digital and genital anomalies syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Arachnodactyly\Craniofacial digital and genital anomalies syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Arachnodactyly\Craniofacial digital and genital anomalies syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Craniofacial digital and genital anomalies 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\Craniofacial digital and genital anomalies syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Craniofacial digital and genital anomalies syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Craniofacial digital and genital anomalies syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Craniofacial digital and genital anomalies syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Craniofacial digital and genital anomalies syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Craniofacial digital and genital anomalies syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Craniofacial digital and genital anomalies syndrome
\Disease\Congenital disease\Congenital malformation\Congenital deformity\Arachnodactyly\Craniofacial digital and genital anomalies 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\Craniofacial digital and genital anomalies syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Craniofacial digital and genital anomalies syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Craniofacial digital and genital anomalies syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Craniofacial digital and genital anomalies syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial digital and genital anomalies syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Arachnodactyly\Craniofacial digital and genital anomalies syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Craniofacial digital and genital anomalies syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial digital and genital anomalies syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Craniofacial digital and genital anomalies syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arachnodactyly\Craniofacial digital and genital anomalies 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\Craniofacial digital and genital anomalies syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Craniofacial digital and genital anomalies syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Craniofacial digital and genital anomalies syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Craniofacial digital and genital anomalies syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial digital and genital anomalies syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Arachnodactyly\Craniofacial digital and genital anomalies 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

3304690010 Cranio-facio-digito-genital syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3304691014 Harrod syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3304693012 Craniofacial digital and genital anomalies syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3304694018 Craniofacial digital and genital anomalies syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Craniofacial digital and genital anomalies syndrome	Is a	Arachnodactyly	true	Inferred relationship	Existential restriction modifier
Craniofacial digital and genital anomalies syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Craniofacial digital and genital anomalies syndrome	Is a	Mental retardation	false	Inferred relationship	Existential restriction modifier
Craniofacial digital and genital anomalies syndrome	Is a	Congenital malformation of genital organs	true	Inferred relationship	Existential restriction modifier
Craniofacial digital and genital anomalies syndrome	Is a	Congenital abnormality of skull and face bones	true	Inferred relationship	Existential restriction modifier
Craniofacial digital and genital anomalies syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	4
Craniofacial digital and genital anomalies syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	4
Craniofacial digital and genital anomalies syndrome	Finding site	Genital structure	false	Inferred relationship	Existential restriction modifier	4
Craniofacial digital and genital anomalies syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
Craniofacial digital and genital anomalies syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	6
Craniofacial digital and genital anomalies syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	7
Craniofacial digital and genital anomalies syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	7
Craniofacial digital and genital anomalies syndrome	Finding site	Bone structure of head	false	Inferred relationship	Existential restriction modifier	7
Craniofacial digital and genital anomalies syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	4
Craniofacial digital and genital anomalies syndrome	Associated morphology	Abnormally long growth	false	Inferred relationship	Existential restriction modifier	5
Craniofacial digital and genital anomalies syndrome	Finding site	Digit structure	false	Inferred relationship	Existential restriction modifier	5
Craniofacial digital and genital anomalies syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	6
Craniofacial digital and genital anomalies syndrome	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	6
Craniofacial digital and genital anomalies syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Craniofacial digital and genital anomalies syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Craniofacial digital and genital anomalies syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Craniofacial digital and genital anomalies syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Craniofacial digital and genital anomalies syndrome	Associated morphology	Abnormally long growth	false	Inferred relationship	Existential restriction modifier	3
Craniofacial digital and genital anomalies syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Craniofacial digital and genital anomalies syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	4
Craniofacial digital and genital anomalies syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Craniofacial digital and genital anomalies syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Craniofacial digital and genital anomalies syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Craniofacial digital and genital anomalies syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Craniofacial digital and genital anomalies syndrome	Finding site	Digit structure	true	Inferred relationship	Existential restriction modifier	3
Craniofacial digital and genital anomalies syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	4
Craniofacial digital and genital anomalies syndrome	Finding site	Bone structure of head	true	Inferred relationship	Existential restriction modifier	2
Craniofacial digital and genital anomalies syndrome	Finding site	Genital structure	true	Inferred relationship	Existential restriction modifier	1
Craniofacial digital and genital anomalies syndrome	Associated morphology	Abnormally long and slender growth	true	Inferred relationship	Existential restriction modifier	3
Craniofacial digital and genital anomalies syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	5
Craniofacial digital and genital anomalies syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	5
Craniofacial digital and genital anomalies syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	6
Craniofacial digital and genital anomalies syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	6

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
3304690010	Cranio-facio-digito-genital syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3304691014	Harrod syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3304693012	Craniofacial digital and genital anomalies syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3304694018	Craniofacial digital and genital anomalies syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module