719685004: Absent thumb with short stature and immunodeficiency syndrome (disorder)

• 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)\Congenital malformation of thumb (disorder)\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Adactyly\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital absence of hand (disorder)\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Congenital absence of hand (disorder)\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital absence of hand (disorder)\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital malformation of thumb (disorder)\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Congenital absence of hand (disorder)\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital absence of hand (disorder)\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of part of upper limb\Congenital absence of hand (disorder)\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Absence of upper limb (finding)\Congenital absence of upper limb\Congenital absence of part of upper limb\Congenital absence of hand (disorder)\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Absence of upper limb (finding)\Absence of hand\Congenital absence of hand (disorder)\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital absence of hand (disorder)\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Congenital absence of hand (disorder)\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital absence of hand (disorder)\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Finding of hand region\Finding of digit of hand\Finding of thumb\Congenital malformation of thumb (disorder)\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Finding of hand region\Absence of hand\Congenital absence of hand (disorder)\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Finding of hand region\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Finding of hand region\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital absence of hand (disorder)\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\...
• \Hereditary disorder of musculoskeletal system\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disorder of skeletal system\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Congenital anomaly of musculoskeletal system\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of immune system\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\trouble de la fonction immunitaire\Hereditary disorder of immune system\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\trouble de la fonction immunitaire\troubles d'immunodéficience\Primary immune deficiency disorder (disorder)\Combined immunodeficiency disease\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\trouble de la fonction immunitaire\troubles d'immunodéficience\Congenital immunodeficiency disease\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of immune system\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital malformation of thumb (disorder)\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Adactyly\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital absence of hand (disorder)\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Congenital absence of hand (disorder)\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital absence of hand (disorder)\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital malformation of thumb (disorder)\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Congenital absence of hand (disorder)\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital absence of hand (disorder)\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of part of upper limb\Congenital absence of hand (disorder)\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital malformation of thumb (disorder)\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Congenital absence of hand (disorder)\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital absence of hand (disorder)\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of part of upper limb\Congenital absence of hand (disorder)\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\Congenital disease\Congenital immunodeficiency disease\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Absent thumb with short stature and immunodeficiency 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\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital malformation of thumb (disorder)\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Congenital absence of hand (disorder)\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital absence of hand (disorder)\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of part of upper limb\Congenital absence of hand (disorder)\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome (disorder)
• \Disease\trouble du développement\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Absent thumb with short stature and immunodeficiency syndrome (disorder)

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
3317482016	Absent thumb with short stature and immunodeficiency syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3317483014	Absent thumb with short stature and immunodeficiency syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3317484015	An exceedingly rare autosomal recessive immune disease with characteristics of thumb aplasia, short stature with skeletal abnormalities and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978.	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