721835008: Acrofrontofacionasal dysostosis type 2 (disorder)

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

\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Lesion of face\Acrofrontofacionasal dysostosis type 2
\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\Multiple malformation syndrome with facial-limb defects as major feature\Acrofrontofacionasal dysostosis type 2
\Head finding (finding)\Skull finding\Disease of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Head finding (finding)\Disorder of head (disorder)\Disease of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Lesion of face\Acrofrontofacionasal dysostosis type 2
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrofrontofacionasal dysostosis type 2
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acrofrontofacionasal dysostosis type 2
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2

\Finding of limb structure (finding)\Disorder of limb\...

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

\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\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 (finding)\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 (finding)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Genitourinary congenital anomalies\Acrofrontofacionasal dysostosis type 2
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Genitourinary congenital anomalies\Acrofrontofacionasal dysostosis type 2
\Finding of trunk structure\Disorder of trunk (disorder)\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)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Genitourinary congenital anomalies\Acrofrontofacionasal dysostosis type 2
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Acrofrontofacionasal dysostosis type 2

\Musculoskeletal finding (finding)\Bone finding\Skull finding\Disease of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disease of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Acrofrontofacionasal dysostosis type 2
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disease of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\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 (disorder)\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 foetus and/or newborn\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\Disorder of foetus and/or newborn\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\Disorder of foetus and/or newborn\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\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\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 foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Acrofrontofacionasal dysostosis type 2
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Disease\Disorder of foetus and/or newborn\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\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Acrofrontofacionasal dysostosis type 2
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Acrofrontofacionasal dysostosis type 2
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Acrofrontofacionasal dysostosis type 2
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Acrofrontofacionasal dysostosis type 2
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Genitourinary congenital anomalies\Acrofrontofacionasal dysostosis type 2
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Acrofrontofacionasal dysostosis type 2
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\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)\Disorder of skeletal system\Disorder of bone (disorder)\Disease of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Disease\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Acrofrontofacionasal dysostosis type 2
\Disease\Disorder of limb\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Acrofrontofacionasal dysostosis type 2
\Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Acrofrontofacionasal dysostosis type 2
\Disease\Disorder of limb\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Acrofrontofacionasal dysostosis type 2
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Acrofrontofacionasal dysostosis type 2
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Genitourinary congenital anomalies\Acrofrontofacionasal dysostosis type 2
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Acrofrontofacionasal dysostosis type 2
\Disease\Disorder of head (disorder)\Disease of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Lesion of face\Acrofrontofacionasal dysostosis type 2
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\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 (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\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 (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Acrofrontofacionasal dysostosis type 2
\Disease\Developmental disorder (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 (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 (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 (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\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 (disorder)\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Acrofrontofacionasal dysostosis type 2
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Acrofrontofacionasal dysostosis type 2
\Disease\Developmental disorder (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 (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Acrofrontofacionasal dysostosis type 2
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Acrofrontofacionasal dysostosis type 2
\Disease\Developmental disorder (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 (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3326191019 Acro-fronto-facio-nasal dysostosis type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3326192014 Acrofrontofacionasal dysostosis type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3326193016 Naguib Richieri Costa syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

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

3786773015 Hypertelorism, hypospadias, polysyndactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5402697012 Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3326191019 Acro-fronto-facio-nasal dysostosis type 2 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3326191019 Acro-fronto-facio-nasal dysostosis type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3326192014 Acrofrontofacionasal dysostosis type 2 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3326192014 Acrofrontofacionasal dysostosis type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3326193016 Naguib Richieri Costa syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3326195011 Acrofrontofacionasal dysostosis type 2 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

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

3786773015 Hypertelorism, hypospadias, polysyndactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3326194010 A very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies. It has been described in three families. Craniofacial manifestations include wide anterior fontanelle, flat occiput, hypertelorism, ptosis, proptosis, broad nasal bridge and nasal tip, long philtrum and posteriorly rotated or low set ears. Hypospadias and shawl scrotum are present in all males. Acral manifestations include syndactyly of fingers, broad thumbs or halluces or preaxial polydactyly. The affected patients have no intellectual deficit. The condition seems to be hereditary, and transmitted as an autosomal recessive trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402697012 Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3440621001000116 Hypertelorismus-Hypospadie-Polysyndaktylie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6026661000241116 dysostose acrofrontofacionasale de type 2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6026661000241116 dysostose acrofrontofacionasale de type 2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3440621001000116 Hypertelorismus-Hypospadie-Polysyndaktylie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained 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 (core metadata concept)
Acrofrontofacionasal dysostosis type 2	Is a	Congenital anomaly of digit	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Acrofrontofacionasal dysostosis type 2	Is a	Acrofrontofacionasal dysostosis (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Acrofrontofacionasal dysostosis type 2	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Acrofrontofacionasal dysostosis type 2	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Acrofrontofacionasal dysostosis type 2	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Acrofrontofacionasal dysostosis type 2	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Acrofrontofacionasal dysostosis type 2	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Acrofrontofacionasal dysostosis type 2	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	8
Acrofrontofacionasal dysostosis type 2	Finding site	Bone structure of cranium	false	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Acrofrontofacionasal dysostosis type 2	Finding site	Digit structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Acrofrontofacionasal dysostosis type 2	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Acrofrontofacionasal dysostosis type 2	Finding site	Face structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Acrofrontofacionasal dysostosis type 2	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	8
Acrofrontofacionasal dysostosis type 2	Finding site	Structure of genitourinary system (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	8
Acrofrontofacionasal dysostosis type 2	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Acrofrontofacionasal dysostosis type 2	Finding site	Digit structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Acrofrontofacionasal dysostosis type 2	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Acrofrontofacionasal dysostosis type 2	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Acrofrontofacionasal dysostosis type 2	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Acrofrontofacionasal dysostosis type 2	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Acrofrontofacionasal dysostosis type 2	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Acrofrontofacionasal dysostosis type 2	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Acrofrontofacionasal dysostosis type 2	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Acrofrontofacionasal dysostosis type 2	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Acrofrontofacionasal dysostosis type 2	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Acrofrontofacionasal dysostosis type 2	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Acrofrontofacionasal dysostosis type 2	Finding site	Bone structure of cranium	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Acrofrontofacionasal dysostosis type 2	Finding site	Bone structure of cranium	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Acrofrontofacionasal dysostosis type 2	Finding site	Face structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Acrofrontofacionasal dysostosis type 2	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Acrofrontofacionasal dysostosis type 2	Finding site	Structure of genitourinary system (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Acrofrontofacionasal dysostosis type 2	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Acrofrontofacionasal dysostosis type 2	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Acrofrontofacionasal dysostosis type 2	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Acrofrontofacionasal dysostosis type 2	Finding site	Digit structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Acrofrontofacionasal dysostosis type 2	Finding site	Face structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Acrofrontofacionasal dysostosis type 2	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Acrofrontofacionasal dysostosis type 2	Is a	Lesion of face	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Acrofrontofacionasal dysostosis type 2	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Acrofrontofacionasal dysostosis type 2	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Acrofrontofacionasal dysostosis type 2	Is a	Dysostosis of bone of skull	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Acrofrontofacionasal dysostosis type 2	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Acrofrontofacionasal dysostosis type 2	Is a	Congenital dysplasia of limb (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3326191019	Acro-fronto-facio-nasal dysostosis type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3326192014	Acrofrontofacionasal dysostosis type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3326193016	Naguib Richieri Costa syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3326195011	Acrofrontofacionasal dysostosis type 2 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3786773015	Hypertelorism, hypospadias, polysyndactyly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5402697012	Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3326191019	Acro-fronto-facio-nasal dysostosis type 2	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3326191019	Acro-fronto-facio-nasal dysostosis type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3326192014	Acrofrontofacionasal dysostosis type 2	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3326192014	Acrofrontofacionasal dysostosis type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3326193016	Naguib Richieri Costa syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3326195011	Acrofrontofacionasal dysostosis type 2 (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3326195011	Acrofrontofacionasal dysostosis type 2 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3786773015	Hypertelorism, hypospadias, polysyndactyly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3326194010	A very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies. It has been described in three families. Craniofacial manifestations include wide anterior fontanelle, flat occiput, hypertelorism, ptosis, proptosis, broad nasal bridge and nasal tip, long philtrum and posteriorly rotated or low set ears. Hypospadias and shawl scrotum are present in all males. Acral manifestations include syndactyly of fingers, broad thumbs or halluces or preaxial polydactyly. The affected patients have no intellectual deficit. The condition seems to be hereditary, and transmitted as an autosomal recessive trait.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402697012	Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3440621001000116	Hypertelorismus-Hypospadie-Polysyndaktylie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6026661000241116	dysostose acrofrontofacionasale de type 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6026661000241116	dysostose acrofrontofacionasale de type 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3440621001000116	Hypertelorismus-Hypospadie-Polysyndaktylie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module