719395001: syndrome de microcéphalie-facio-cardio-squelettique type Hadziselimovic (trouble)

• SNOMED CT Concept\constatation clinique\...
• \Viscus structure finding (finding)\constatation cardiaque\cardiopathie (trouble)\atteinte de la structure du cœur\maladie cardiaque congénitale\Hadziselimovic syndrome
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Hadziselimovic syndrome
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\maladie cardiaque congénitale\Hadziselimovic syndrome
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\maladie cardiaque congénitale\Hadziselimovic syndrome
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\cardiopathie (trouble)\atteinte de la structure du cœur\maladie cardiaque congénitale\Hadziselimovic syndrome
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\constatation cardiaque\cardiopathie (trouble)\atteinte de la structure du cœur\maladie cardiaque congénitale\Hadziselimovic syndrome
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\cardiopathie (trouble)\atteinte de la structure du cœur\maladie cardiaque congénitale\Hadziselimovic syndrome
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Congenital anomaly of thorax\maladie cardiaque congénitale\Hadziselimovic syndrome
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\cardiopathie (trouble)\atteinte de la structure du cœur\maladie cardiaque congénitale\Hadziselimovic syndrome
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\maladie cardiaque congénitale\Hadziselimovic syndrome
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\maladie cardiaque congénitale\Hadziselimovic syndrome
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\cardiopathie (trouble)\atteinte de la structure du cœur\maladie cardiaque congénitale\Hadziselimovic syndrome
• \constatation à propos d'une structure du tronc\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\maladie cardiaque congénitale\Hadziselimovic syndrome
• \constatation à propos d'une structure du tronc\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\maladie cardiaque congénitale\Hadziselimovic syndrome
• \constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Hadziselimovic syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Hadziselimovic syndrome
• \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\Hadziselimovic syndrome
• \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\Hadziselimovic syndrome
• \affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\Hadziselimovic syndrome
• \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\Hadziselimovic syndrome
• \constatation générale à propos de l'observation du patient\Body measurement finding\...
• \Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\Hadziselimovic syndrome
• \Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Hadziselimovic syndrome
• \constatation cardiovasculaire\constatation cardiaque\cardiopathie (trouble)\atteinte de la structure du cœur\maladie cardiaque congénitale\Hadziselimovic syndrome
• \constatation cardiovasculaire\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\maladie cardiaque congénitale\Hadziselimovic syndrome
• \constatation cardiovasculaire\Disorder of cardiovascular system (disorder)\cardiopathie (trouble)\atteinte de la structure du cœur\maladie cardiaque congénitale\Hadziselimovic syndrome
• \Disease\Genetic disease\Hadziselimovic syndrome
• \Disease\affection d'un système corporel\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\maladie cardiaque congénitale\Hadziselimovic syndrome
• \Disease\affection d'un système corporel\Disorder of cardiovascular system (disorder)\cardiopathie (trouble)\atteinte de la structure du cœur\maladie cardiaque congénitale\Hadziselimovic syndrome
• \Disease\affection d'un système corporel\Disorder of mediastinum (disorder)\cardiopathie (trouble)\atteinte de la structure du cœur\maladie cardiaque congénitale\Hadziselimovic syndrome
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Hadziselimovic syndrome
• \Disease\affection du tronc\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\maladie cardiaque congénitale\Hadziselimovic syndrome
• \Disease\affection du tronc\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\maladie cardiaque congénitale\Hadziselimovic syndrome
• \Disease\affection du tronc\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\cardiopathie (trouble)\atteinte de la structure du cœur\maladie cardiaque congénitale\Hadziselimovic syndrome
• \Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\maladie cardiaque congénitale\Hadziselimovic syndrome
• \Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\maladie cardiaque congénitale\Hadziselimovic syndrome
• \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\Hadziselimovic syndrome
• \Disease\affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\Hadziselimovic syndrome
• \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\Hadziselimovic syndrome
• \Disease\Congenital disease\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\maladie cardiaque congénitale\Hadziselimovic syndrome
• \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\Hadziselimovic syndrome
• \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\Hadziselimovic syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Hadziselimovic syndrome
• \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\Hadziselimovic syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\maladie cardiaque congénitale\Hadziselimovic syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\maladie cardiaque congénitale\Hadziselimovic syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Hadziselimovic syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\maladie cardiaque congénitale\Hadziselimovic syndrome
• \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\Hadziselimovic syndrome
• \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\Hadziselimovic syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Hadziselimovic syndrome
• \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\Hadziselimovic syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\maladie cardiaque congénitale\Hadziselimovic syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\maladie cardiaque congénitale\Hadziselimovic syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Hadziselimovic syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\maladie cardiaque congénitale\Hadziselimovic syndrome
• \Disease\trouble du développement\anomalie staturale\insuffisance staturale\Hadziselimovic syndrome

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
3316198014	Microcephaly faciocardioskeletal syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316199018	Hadziselimovic syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3316201016	Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3316202011	Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
754061000241118	syndrome de microcéphalie-facio-cardio-squelettique type Hadziselimovic (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
950281000172112	syndrome de Hadziselimovic	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
967281000172115	syndrome de microcéphalie-facio-cardio-squelettique type Hadziselimovic	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
4553898019	A rare syndrome with characteristics of pre-natal onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

Back to Start