725434009: syndrome faciodigitogénital autosomique récessif (trouble)

SNOMED CT Concept\constatation clinique\...

\constatation à propos de la structure d'un membre\affection d'une extrémité\...

\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)

\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Autosomal recessive faciodigitogenital syndrome (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\Autosomal recessive faciodigitogenital syndrome (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\Autosomal recessive faciodigitogenital syndrome (disorder)
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Autosomal recessive faciodigitogenital syndrome (disorder)
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\Autosomal recessive faciodigitogenital syndrome (disorder)
\constatation à propos d'une structure du tronc\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Autosomal recessive faciodigitogenital syndrome (disorder)

\constatation à propos d'une région de la tête et du cou\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)

\affection de la tête\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)
\affection de la tête\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\maladie héréditaire\Hereditary disorder by system\Autosomal recessive faciodigitogenital syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Autosomal recessive faciodigitogenital syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive faciodigitogenital syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Autosomal recessive faciodigitogenital syndrome (disorder)
\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\Autosomal recessive faciodigitogenital syndrome (disorder)
\Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Autosomal recessive faciodigitogenital syndrome (disorder)
\Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Autosomal recessive faciodigitogenital syndrome (disorder)
\Disease\affection d'une extrémité\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Autosomal recessive faciodigitogenital syndrome (disorder)
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Autosomal recessive faciodigitogenital syndrome (disorder)
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\Autosomal recessive faciodigitogenital syndrome (disorder)
\Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Autosomal recessive faciodigitogenital syndrome (disorder)
\Disease\affection de la tête\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\affection de la tête\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\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\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\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\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\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Autosomal recessive faciodigitogenital syndrome (disorder)
\Disease\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\Autosomal recessive faciodigitogenital syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Autosomal recessive faciodigitogenital syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Autosomal recessive faciodigitogenital syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Autosomal recessive faciodigitogenital syndrome (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\Autosomal recessive faciodigitogenital syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\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\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\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\trouble du développement\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Autosomal recessive faciodigitogenital syndrome (disorder)
\Disease\trouble du développement\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\trouble du développement\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Autosomal recessive faciodigitogenital syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Autosomal recessive faciodigitogenital syndrome (disorder)
\Disease\trouble du développement\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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive faciodigitogenital syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Autosomal recessive faciodigitogenital syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Autosomal recessive faciodigitogenital syndrome (disorder)	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	1
Autosomal recessive faciodigitogenital syndrome (disorder)	morphologie associée (attribut)	structure anormale sur le plan morphologique	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)	morphologie associée (attribut)	structure anormale sur le plan morphologique	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)	localisation d'une constatation (attribut)	face	true	Inferred relationship	Some	1
Autosomal recessive faciodigitogenital syndrome (disorder)	localisation d'une constatation (attribut)	Digit structure	true	Inferred relationship	Some	2
Autosomal recessive faciodigitogenital syndrome (disorder)	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Autosomal recessive faciodigitogenital syndrome (disorder)	est un(e) (attribut)	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Autosomal recessive faciodigitogenital syndrome (disorder)	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive faciodigitogenital syndrome (disorder)	est un(e) (attribut)	anomalies congénitales génito-urinaires	true	Inferred relationship	Some
Autosomal recessive faciodigitogenital syndrome (disorder)	est un(e) (attribut)	Hereditary disorder by system	true	Inferred relationship	Some
Autosomal recessive faciodigitogenital syndrome (disorder)	est un(e) (attribut)	Congenital anomaly of digit (disorder)	true	Inferred relationship	Some
Autosomal recessive faciodigitogenital syndrome (disorder)	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	3
Autosomal recessive faciodigitogenital syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	3
Autosomal recessive faciodigitogenital syndrome (disorder)	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	4
Autosomal recessive faciodigitogenital syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	4
Autosomal recessive faciodigitogenital syndrome (disorder)	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	5
Autosomal recessive faciodigitogenital syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	5
Autosomal recessive faciodigitogenital syndrome (disorder)	localisation d'une constatation (attribut)	Structure of genitourinary system	true	Inferred relationship	Some	3
Autosomal recessive faciodigitogenital syndrome (disorder)	localisation d'une constatation (attribut)	Structure of genitourinary system	false	Inferred relationship	Some	5
Autosomal recessive faciodigitogenital syndrome (disorder)	localisation d'une constatation (attribut)	face	false	Inferred relationship	Some	4
Autosomal recessive faciodigitogenital syndrome (disorder)	localisation d'une constatation (attribut)	Digit structure	false	Inferred relationship	Some	3

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
761091000241115	syndrome faciodigitogénital autosomique récessif (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
874351000172112	syndrome d'Aarskog-like	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
985391000172119	syndrome faciodigitogénital autosomique récessif	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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