719258003: Pyknoachondrogenesis (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \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\A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.
• \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\A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.
• \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\A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.
• \Disease\Disorder of foetus and/or newborn\Congenital disease\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\A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.
• \Disease\Disorder of foetus and/or newborn\Congenital disease\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\A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.
• \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\A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.
• \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\A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.
• \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\A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.
• \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\A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.
• \Disease\Developmental disorder\Developmental hereditary disorder\A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.
• \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\A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.
• \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\A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.
• \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\A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.

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
3315731016	Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis. The disease is very rare and only five cases (four males and one female) have been reported in the literature so far. Pyknoachondrogenesis may be detected prenatally due to the extreme shortening of the limbs and hydrops fetalis, or is recognized at birth. The main clinical manifestations include a large head, palpebral edema, a flat nose, low-set ears, a short neck, a short and wide trunk, a prominent abdomen, and severe micromelic dwarfism. Etiology remains unknown. Pyknoachondrogenesis has a lethal outcome, either prenatally or during the early neonatal period.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
3315732011	Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterised by severe generalised osteosclerosis. The disease is very rare and only five cases (four males and one female) have been reported in the literature so far. Pyknoachondrogenesis may be detected prenatally due to the extreme shortening of the limbs and hydrops fetalis, or is recognised at birth. The main clinical manifestations include a large head, palpebral oedema, a flat nose, low-set ears, a short neck, a short and wide trunk, a prominent abdomen, and severe micromelic dwarfism. Aetiology remains unknown. Pyknoachondrogenesis has a lethal outcome, either prenatally or during the early neonatal period.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402035015	A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402036019	A lethal skeletal osteochondrodysplasia characterised by severe generalised osteosclerosis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3315539016	Pyknoachondrogenesis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3315729013	Pyknoachondrogenesis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3315730015	Camera syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

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