721835008: Acrofrontofacionasal dysostosis type 2 (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\...

\Disorder of digit\Congenital anomaly of digit\Acrofrontofacionasal dysostosis type 2

\Congenital anomaly of limb\Congenital anomaly of digit\Acrofrontofacionasal dysostosis type 2
\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Acrofrontofacionasal dysostosis type 2

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Acrofrontofacionasal dysostosis type 2
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Acrofrontofacionasal dysostosis type 2
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Genitourinary congenital anomalies\Acrofrontofacionasal dysostosis type 2
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Acrofrontofacionasal dysostosis type 2
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Acrofrontofacionasal dysostosis type 2
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Acrofrontofacionasal dysostosis type 2

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

\Finding of head region\Finding of face\Disorder of face\...

\Lesion of face\Acrofrontofacionasal dysostosis type 2

\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrofrontofacionasal dysostosis type 2

\Skull finding\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2

\Disorder of head\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Disorder of head\Disorder of face\Lesion of face\Acrofrontofacionasal dysostosis type 2
\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrofrontofacionasal dysostosis type 2
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrofrontofacionasal dysostosis type 2
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2

\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Acrofrontofacionasal dysostosis type 2
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\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\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Acrofrontofacionasal dysostosis type 2
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Acrofrontofacionasal dysostosis type 2
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Acrofrontofacionasal dysostosis type 2
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Acrofrontofacionasal dysostosis type 2
\Disease\Disorder of body system\Disorder of the genitourinary system\Genitourinary congenital anomalies\Acrofrontofacionasal dysostosis type 2
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Acrofrontofacionasal dysostosis type 2
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\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\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\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\Dysostosis\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\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\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Acrofrontofacionasal dysostosis type 2
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Acrofrontofacionasal dysostosis type 2
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Acrofrontofacionasal dysostosis type 2
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Acrofrontofacionasal dysostosis type 2
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Acrofrontofacionasal dysostosis type 2
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Acrofrontofacionasal dysostosis type 2
\Disease\Disorder of head\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Disease\Disorder of head\Disorder of face\Lesion of face\Acrofrontofacionasal dysostosis type 2
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrofrontofacionasal dysostosis type 2
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrofrontofacionasal dysostosis type 2
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrofrontofacionasal dysostosis type 2
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrofrontofacionasal dysostosis type 2
\Disease\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Acrofrontofacionasal dysostosis type 2
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrofrontofacionasal dysostosis type 2
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Acrofrontofacionasal dysostosis type 2
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Acrofrontofacionasal dysostosis type 2
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Acrofrontofacionasal dysostosis type 2
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Disease\Developmental disorder\Developmental hereditary disorder\Acrofrontofacionasal dysostosis type 2
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrofrontofacionasal dysostosis type 2
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrofrontofacionasal dysostosis type 2
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Acrofrontofacionasal dysostosis type 2
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrofrontofacionasal dysostosis type 2
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Acrofrontofacionasal dysostosis type 2
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Acrofrontofacionasal dysostosis type 2
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Acrofrontofacionasal dysostosis type 2

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

Descriptions:

Id Description Lang Type Status Case? Module

3326191019 Acro-fronto-facio-nasal dysostosis type 2 en Synonym Active Entire term case insensitive SNOMED CT core module

3326192014 Acrofrontofacionasal dysostosis type 2 en Synonym Active Entire term case insensitive SNOMED CT core module

3326193016 Naguib Richieri Costa syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3326195011 Acrofrontofacionasal dysostosis type 2 (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3786773015 Hypertelorism, hypospadias, polysyndactyly syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Acrofrontofacionasal dysostosis type 2	Is a	Genitourinary congenital anomalies	true	Inferred relationship	Existential restriction modifier
Acrofrontofacionasal dysostosis type 2	Is a	Congenital anomaly of digit	true	Inferred relationship	Existential restriction modifier
Acrofrontofacionasal dysostosis type 2	Is a	Acrofrontofacionasal dysostosis	false	Inferred relationship	Existential restriction modifier
Acrofrontofacionasal dysostosis type 2	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	5
Acrofrontofacionasal dysostosis type 2	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
Acrofrontofacionasal dysostosis type 2	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	6
Acrofrontofacionasal dysostosis type 2	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	7
Acrofrontofacionasal dysostosis type 2	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	7
Acrofrontofacionasal dysostosis type 2	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	8
Acrofrontofacionasal dysostosis type 2	Finding site	Bone structure of cranium	false	Inferred relationship	Existential restriction modifier	7
Acrofrontofacionasal dysostosis type 2	Finding site	Digit structure	false	Inferred relationship	Existential restriction modifier	5
Acrofrontofacionasal dysostosis type 2	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	6
Acrofrontofacionasal dysostosis type 2	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	6
Acrofrontofacionasal dysostosis type 2	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	8
Acrofrontofacionasal dysostosis type 2	Finding site	Structure of genitourinary system	false	Inferred relationship	Existential restriction modifier	8
Acrofrontofacionasal dysostosis type 2	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	4
Acrofrontofacionasal dysostosis type 2	Finding site	Digit structure	false	Inferred relationship	Existential restriction modifier	3
Acrofrontofacionasal dysostosis type 2	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Acrofrontofacionasal dysostosis type 2	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Acrofrontofacionasal dysostosis type 2	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Acrofrontofacionasal dysostosis type 2	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	4
Acrofrontofacionasal dysostosis type 2	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Acrofrontofacionasal dysostosis type 2	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Acrofrontofacionasal dysostosis type 2	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Acrofrontofacionasal dysostosis type 2	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	3
Acrofrontofacionasal dysostosis type 2	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Acrofrontofacionasal dysostosis type 2	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Acrofrontofacionasal dysostosis type 2	Finding site	Bone structure of cranium	false	Inferred relationship	Existential restriction modifier	2
Acrofrontofacionasal dysostosis type 2	Finding site	Bone structure of cranium	true	Inferred relationship	Existential restriction modifier	3
Acrofrontofacionasal dysostosis type 2	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	1
Acrofrontofacionasal dysostosis type 2	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	4
Acrofrontofacionasal dysostosis type 2	Finding site	Structure of genitourinary system	true	Inferred relationship	Existential restriction modifier	4
Acrofrontofacionasal dysostosis type 2	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Acrofrontofacionasal dysostosis type 2	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	2
Acrofrontofacionasal dysostosis type 2	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	3
Acrofrontofacionasal dysostosis type 2	Finding site	Digit structure	true	Inferred relationship	Existential restriction modifier	1
Acrofrontofacionasal dysostosis type 2	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	2
Acrofrontofacionasal dysostosis type 2	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Acrofrontofacionasal dysostosis type 2	Is a	Lesion of face	true	Inferred relationship	Existential restriction modifier
Acrofrontofacionasal dysostosis type 2	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Existential restriction modifier
Acrofrontofacionasal dysostosis type 2	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Acrofrontofacionasal dysostosis type 2	Is a	Dysostosis of bone of skull	true	Inferred relationship	Existential restriction modifier
Acrofrontofacionasal dysostosis type 2	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier

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
3326191019	Acro-fronto-facio-nasal dysostosis type 2	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3326192014	Acrofrontofacionasal dysostosis type 2	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3326193016	Naguib Richieri Costa syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3326195011	Acrofrontofacionasal dysostosis type 2 (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3786773015	Hypertelorism, hypospadias, polysyndactyly syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module