725434009: Autosomal recessive faciodigitogenital syndrome (disorder)

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

\Finding of limb structure\Disorder of extremity (disorder)\...

\Disorder of digit\Congenital anomaly of digit (disorder)\Autosomal recessive faciodigitogenital syndrome (disorder)

\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Autosomal recessive faciodigitogenital syndrome (disorder)
\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Autosomal recessive faciodigitogenital syndrome (disorder)

\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\Autosomal recessive faciodigitogenital 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\Autosomal recessive faciodigitogenital 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\Autosomal recessive faciodigitogenital syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Autosomal recessive faciodigitogenital 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\Autosomal recessive faciodigitogenital syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Autosomal recessive faciodigitogenital 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\Multiple malformation syndrome with facial-limb defects as major feature\Autosomal recessive faciodigitogenital syndrome (disorder)

\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\Autosomal recessive faciodigitogenital syndrome (disorder)
\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\Autosomal recessive faciodigitogenital syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Autosomal recessive faciodigitogenital syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autosomal recessive faciodigitogenital syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive faciodigitogenital syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Autosomal recessive faciodigitogenital syndrome (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Autosomal recessive faciodigitogenital syndrome (disorder)
\Disease\Disorder of extremity (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Autosomal recessive faciodigitogenital syndrome (disorder)
\Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Autosomal recessive faciodigitogenital syndrome (disorder)
\Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Autosomal recessive faciodigitogenital syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Autosomal recessive faciodigitogenital syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Autosomal recessive faciodigitogenital syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Autosomal recessive faciodigitogenital 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\Multiple malformation syndrome with facial-limb defects as major feature\Autosomal recessive faciodigitogenital 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\Multiple malformation syndrome with facial-limb defects as major feature\Autosomal recessive faciodigitogenital 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\Multiple malformation syndrome with facial-limb defects as major feature\Autosomal recessive faciodigitogenital syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Autosomal recessive faciodigitogenital syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Autosomal recessive faciodigitogenital 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\Multiple malformation syndrome with facial-limb defects as major feature\Autosomal recessive faciodigitogenital syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Autosomal recessive faciodigitogenital syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Autosomal recessive faciodigitogenital syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Autosomal recessive faciodigitogenital syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Autosomal recessive faciodigitogenital syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Autosomal recessive faciodigitogenital syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Autosomal recessive faciodigitogenital syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Autosomal recessive faciodigitogenital 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\Multiple malformation syndrome with facial-limb defects as major feature\Autosomal recessive faciodigitogenital syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Autosomal recessive faciodigitogenital syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Autosomal recessive faciodigitogenital syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Autosomal recessive faciodigitogenital syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3442892016 Autosomal recessive faciodigitogenital syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3442893014 Autosomal recessive facio-digito-genital syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3442894015 Aarskog-like syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3442895019 Autosomal recessive faciodigitogenital syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3442896018 Facio-digito-genital syndrome Kuwait type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3442897010 Teebi Naguib Alawadi syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3442898017 A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum. It has been observed in 16 subjects from five distantly related sibships of a large Kuwaiti Bedouin tribe. The affected patients had no intellectual deficit. Transmitted as an autosomal recessive trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3993441000052117 autosomalt recessivt faciodigitogenitalt syndrom sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive faciodigitogenital syndrome (disorder)	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Autosomal recessive faciodigitogenital syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive faciodigitogenital syndrome (disorder)	Is a	Genitourinary congenital anomalies	true	Inferred relationship	Some
Autosomal recessive faciodigitogenital syndrome (disorder)	Is a	Hereditary disorder by system	true	Inferred relationship	Some
Autosomal recessive faciodigitogenital syndrome (disorder)	Is a	Congenital anomaly of digit (disorder)	true	Inferred relationship	Some
Autosomal recessive faciodigitogenital syndrome (disorder)	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	3
Autosomal recessive faciodigitogenital syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Autosomal recessive faciodigitogenital syndrome (disorder)	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	4
Autosomal recessive faciodigitogenital syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Autosomal recessive faciodigitogenital syndrome (disorder)	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	5
Autosomal recessive faciodigitogenital syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Autosomal recessive faciodigitogenital syndrome (disorder)	Finding site	Structure of genitourinary system (body structure)	true	Inferred relationship	Some	3
Autosomal recessive faciodigitogenital syndrome (disorder)	Finding site	Structure of genitourinary system (body structure)	false	Inferred relationship	Some	5
Autosomal recessive faciodigitogenital syndrome (disorder)	Finding site	Face structure	false	Inferred relationship	Some	4
Autosomal recessive faciodigitogenital syndrome (disorder)	Finding site	Digit structure	false	Inferred relationship	Some	3
Autosomal recessive faciodigitogenital syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal recessive faciodigitogenital syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Autosomal recessive faciodigitogenital syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Autosomal recessive faciodigitogenital syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Autosomal recessive faciodigitogenital syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Autosomal recessive faciodigitogenital syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Autosomal recessive faciodigitogenital syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
Autosomal recessive faciodigitogenital syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Autosomal recessive faciodigitogenital syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	1
Autosomal recessive faciodigitogenital syndrome (disorder)	Finding site	Digit structure	true	Inferred relationship	Some	2
Autosomal recessive faciodigitogenital syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3442892016	Autosomal recessive faciodigitogenital syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3442893014	Autosomal recessive facio-digito-genital syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3442894015	Aarskog-like syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3442895019	Autosomal recessive faciodigitogenital syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3442896018	Facio-digito-genital syndrome Kuwait type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3442897010	Teebi Naguib Alawadi syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3442898017	A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum. It has been observed in 16 subjects from five distantly related sibships of a large Kuwaiti Bedouin tribe. The affected patients had no intellectual deficit. Transmitted as an autosomal recessive trait.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3993441000052117	autosomalt recessivt faciodigitogenitalt syndrom	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)